Total submissions: 67
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000211775 | SCV000840537 | pathogenic | Nonsyndromic genetic hearing loss | 2018-09-20 | reviewed by expert panel | curation | The c.35delG variant in GJB2 is predicted to cause a premature stop codon in biologically-relevant-exon 2/2 that leads to a truncated or absent protein in a gene in which loss-of-function is an established mechanism (PVS1). This variant has been detected in patients with hearing loss in trans with at least 4 pathogenic or suspected-pathogenic variants (PM3_VS; PMID: 26445815). This variant was found to have a statistically higher prevalence in affected individuals over controls (PS4; PMID: 26969326, 25999548). The filtering allele frequency of the c.35delG variant in the GJB2 gene is 0.9% for European (Non-Finnish) chromosomes in the Genome Aggregation Database (1207/124552 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). The ClinGen Hearing Loss Expert Panel believes that the evidence for the pathogenicity of this variant for hearing loss outweighs the high allele frequency of the variant in population databases. Therefore, the BA1 code will not contribute to the overall classification. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive non-syndromic hearing loss based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PVS1, PM3_VS, PS4, BA1. |
Laboratory for Molecular Medicine, |
RCV000844702 | SCV000061505 | pathogenic | Rare genetic deafness | 2018-03-01 | criteria provided, single submitter | clinical testing | The c.35delG variant in GJB2 is known to be pathogenic with many supporting publ ications. ACMG/AMP Criteria applied: PVS1, PM3_VeryStrong. |
Genetic Services Laboratory, |
RCV000146019 | SCV000193171 | pathogenic | Hearing impairment | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000018527 | SCV000223930 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2016-03-14 | criteria provided, single submitter | clinical testing | The c.35delG (p.Gly12Valfs*2) frameshift variant introduces a premature stop codon, leading to the truncation of the Connexin 26 protein. The c.35delG variant represents the most common pathogenic variant in Caucasian patients with genetic sensorineural deafness (Carrasquillo et al. 1997; Denoyelle et al. 1997; Zelante et al. 1997; Green et al. 1999; Gasparini et al. 2000; Kenneson et al. 2002; Bouwer et al. 2007). Therefore, this collective evidence supports the classification of the c.35delG (p.Gly12Valfs*2) as a Pathogenic variant for Nonsyndromic hearing loss. |
Eurofins NTD LLC |
RCV000080373 | SCV000227317 | pathogenic | not provided | 2016-01-04 | criteria provided, single submitter | clinical testing | The c.35delG deletion is the most common pathogenic variant associated with hearing loss. Www.ncbi.nlm.nih.gov/books/NBK1272/1 |
Genomic Diagnostic Laboratory, |
RCV000080373 | SCV000257945 | pathogenic | not provided | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000080373 | SCV000280697 | pathogenic | not provided | 2014-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080373 | SCV000321725 | pathogenic | not provided | 2021-11-04 | criteria provided, single submitter | clinical testing | Case control studies suggest this variant is associated with hearing loss; allele frequency of the variant is significantly higher in individuals with hearing loss compared to individuals in the general population (Tsukada et al., 2015; Sloan-Heggen et al., 2016); Frameshift variant predicted to result in protein truncation, as the last 214 amino acids are lost (Stenson et al., 2014); In vitro studies demonstrate that the c.35delG variant results in loss of connexin 26 function (D'Andrea et al., 2002); Classified as pathogenic by the ClinGen Hearing Loss Variant Curation Expert Panel (SCV000840537.3; Oza et al., 2018); This variant is associated with the following publications: (PMID: 20815033, 22975760, 26896187, 29234782, 9819448, 18985073, 25262649, 12833397, 16088916, 21465647, 15070423, 20073550, 19925344, 20739944, 23489192, 27316387, 17666888, 16222667, 27843504, 12189487, 14738110, 25266519, 9285800, 27153395, 26990548, 19274344, 27177047, 25533962, 29501291, 29293505, 29431110, 29016196, 28281779, 17431919, 12169891, 12172392, 30609409, 30730013, 30094485, 29372807, 29542069, 29086887, 30168495, 30390570, 30431684, 31163360, 29907799, 30055715, 31028937, 31370293, 31162818, 30344259, 31564438, 31130284, 31541171, 32279305, 31827275, 31980526, 31160754, 30275481, 10782932, 32747562, 33443819, 14759569, 33096615, 29871260, 33297549, 12068628, 33466560, 33105617, 32067424, 32853555, 32860223, 11355484, 32842620, 31078570, 10713883, 12176036, 26969326, 25999548) |
Counsyl | RCV000411531 | SCV000487402 | pathogenic | Autosomal dominant nonsyndromic hearing loss 3A | 2016-03-08 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000415181 | SCV000492685 | pathogenic | Bilateral sensorineural hearing impairment | 2014-10-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000146019 | SCV000492742 | pathogenic | Hearing impairment | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000415367 | SCV000492743 | pathogenic | Hearing impairment; Bilateral conductive hearing impairment | 2015-01-13 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000414886 | SCV000492744 | pathogenic | Hearing impairment; Bilateral sensorineural hearing impairment | 2014-04-12 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000018527 | SCV000599723 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2017-05-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000080373 | SCV000603812 | pathogenic | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing | The GJB2 c.35delG; p.Gly12ValfsTer2 variant (rs80338939) is the most common pathogenic GJB2 variant found among individuals with European ancestry (Estivill 1998, Gasparini 2000). It has been described in the homozygous and compound heterozygous state in individuals affected with autosomal recessive nonsyndromic hearing loss with severity ranging from mild to profound (Estivill 1998, Gasparini 2000, Putcha 2007). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 17004) and is observed in the general population at an overall frequency of 0.6% (1721/275002 alleles, 10 homozygotes) in the Genome Aggregation Database. This variant causes a frameshift by deleting a single nucleotide, and in vitro functional studies demonstrate a loss of connexin 26 function (D'Andrea 2002). Based on available information, this variant is considered pathogenic. D'Andrea P et al. Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem Biophys Res Commun. 2002 Aug 23;296(3):685-91. Estivill X et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 1998 Feb 7;351(9100):394-8. Gasparini P et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet. 2000 Jan;8(1):19-23. Putcha G et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul;9(7):413-26. |
Athena Diagnostics Inc | RCV000080373 | SCV000613516 | pathogenic | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant is one of the most common variants associated with the recessive form of nonsyndromic hearing loss, DFNB1 (PMID: 20301449), and so therefore the frequency of this variant in the general population is consistent with pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). This variant is also referred to as 35delG, and sometimes 30delG, in published literature. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. In vitro studies demonstrate this variant results in loss of connexin 26 function (PMID: 12176036). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000018527 | SCV000698250 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2017-08-08 | criteria provided, single submitter | clinical testing | Variant summary: The GJB2 c.35delG (p.Gly12Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent GJB2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., c.71G>A [p.Trp24X], c.131G>A [p.Trp44X], and c.167delT [p.Leu56fs). This variant was found in 733/122042 control chromosomes (3 homozygotes) including ExAC at a frequency of 0.0060061, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). This variant is known to be the most common pathogenic GJB2 variant worldwide that causes autosomal recessive nonsyndromic hearing loss. Immunochemistry studies showed that the variant does not produce detectable protein and prevents normal intercellular molecular transfer (D'Andrea_BBRC_2002). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Ambry Genetics | RCV000623840 | SCV000741869 | pathogenic | Inborn genetic diseases | 2014-09-07 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected |
Genomic Research Center, |
RCV000018527 | SCV000746336 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000018527 | SCV000915629 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2018-12-04 | criteria provided, single submitter | clinical testing | The GJB2 c.35delG (p.Gly12ValfsTer2) variant, which results in a frameshift and is predicted to result in premature termination of the protein, is one of the most common variants associated with the recessive form of nonsyndromic hearing loss, DFNB1, with more than half of all persons of northern European ancestry with two identifiable GJB2 mutations being homozygous for this variant (Scott et al. 1998). Across a small selection of the available literature, the p.Gly12ValfsTer2 variant has been identified in a homozygous state in 89 individuals with hearing loss, in a compound heterozygous state in 23 affected individuals, and in a heterozygous state in 11 affected individuals in whom a second variant was not identified (Zelante et al. 1997; Estivill et al. 1998; Murgia et al. 1999; Snoeckx et al. 2005). The p.Gly12ValfsTer2 variant was identified in a total of ten of 800 control chromosomes and is reported at a frequency of 0.0152 in the Utah residents with Northern and Western European ancestry population of the 1000 Genomes Project which is consistent with the carrier frequency for p.Gly12ValfsTer2 (Snoeckx et al. 2005). Based on the potential impact of frameshift variants and the evidence from the literature the p.Gly12ValfsTer2 variant is classified as pathogenic for recessive nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Laboratory of Medical Genetics, |
RCV000018527 | SCV000928370 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2018-06-26 | criteria provided, single submitter | clinical testing | PVS1, PS3, PM1, PP5 |
Invitae | RCV000080373 | SCV000950817 | pathogenic | not provided | 2021-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly12Valfs*2) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 215 amino acid(s) of the GJB2 protein. This variant is present in population databases (rs80338939, gnomAD 1.0%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 9285800, 9328482, 12239718). It is commonly reported in individuals of European ancestry (PMID: 10751669, 12172392, 12176036, 12239718, 19925344). ClinVar contains an entry for this variant (Variation ID: 17004). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects GJB2 function (PMID: 12176036). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000018527 | SCV001138912 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000018527 | SCV001149786 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001004400 | SCV001163372 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B | criteria provided, single submitter | clinical testing | ||
Myriad Genetics, |
RCV000018527 | SCV001193910 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2019-10-18 | criteria provided, single submitter | clinical testing | NM_004004.5(GJB2):c.35delG(aka p.G12Vfs*2) is classified as pathogenic in the context of GJB2-related DFNB1 nonsyndromic hearing loss and deafness. Sources cited for classification include the following: PMID 12176036, 24158611, 19371219, 15967879, 16380907. Classification of NM_004004.5(GJB2):c.35delG(aka p.G12Vfs*2) is based on the following criteria: The variant causes a premature termination codon that is not expected to be targeted by nonsense-mediated mRNA decay; however, literature evidence strongly supports pathogenicity. Please note: this variant was assessed in the context of healthy population screening. |
Victorian Clinical Genetics Services, |
RCV000018527 | SCV001244783 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2017-06-20 | criteria provided, single submitter | clinical testing | A homozygous deletion variant was identified, NM_004004.5(GJB2):c.35delG in exon 2 of the GJB2 gene.This deletion creates a frameshift from amino acid position 12, introducing a stop codon 2 residues downstream, NP_003995.2(GJB2):p.(Gly12Valfs*2). This results in loss of protein function through truncation (majority of the protein).This variant is present in the gnomAD population database at a frequency of 0.6%. It has been previously reported to be the most common pathogenic variant in deaf individuals with European ancestry (ClinVar). In addition, other truncating variants downstream of c.35delG in GJB2 have been reported as pathogenic in individuals with deafness (ClinVar). Based on current information, this variant has been classified as PATHOGENIC. |
Ce |
RCV000080373 | SCV001245655 | pathogenic | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | |
UNC Molecular Genetics Laboratory, |
RCV000018527 | SCV001251502 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | criteria provided, single submitter | research | The GJB2 c.35delG (p.G12fs) frameshift variant is reported as the most common pathogenic variant associated with autosomal recessive nonsyndromic hearing loss (PMID: 9285800; 9328482; 9819448; 12176036; 20301449). | |
Centre for Mendelian Genomics, |
RCV000411531 | SCV001370264 | pathogenic | Autosomal dominant nonsyndromic hearing loss 3A | 2019-06-11 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM1. This variant was detected in homozygous state. |
Institute of Human Genetics, |
RCV000018527 | SCV001429469 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2022-11-23 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM3_VSTR, PS4, BA1_STR |
INGEBI, |
RCV000211775 | SCV001434024 | pathogenic | Nonsyndromic genetic hearing loss | 2020-08-31 | criteria provided, single submitter | clinical testing | Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: PVS1, PM3_VS, PS4 |
Institute of Medical Genetics and Applied Genomics, |
RCV000080373 | SCV001448121 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV001270107 | SCV001448940 | pathogenic | Hearing loss, autosomal recessive | 2016-09-21 | criteria provided, single submitter | clinical testing | |
Clinical Genetics Karolinska University Hospital, |
RCV000080373 | SCV001449612 | pathogenic | not provided | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire, |
RCV000080373 | SCV001468968 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Department of Otolaryngology – Head & Neck Surgery, |
RCV000146019 | SCV001571776 | pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PS3_Strong |
Genome- |
RCV000018527 | SCV001593117 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2021-03-19 | criteria provided, single submitter | clinical testing | We found this variant in a patient with hearing impairment in a homozygous state. |
Equipe Genetique des Anomalies du Developpement, |
RCV000146019 | SCV001736939 | pathogenic | Hearing impairment | criteria provided, single submitter | clinical testing | ||
Center of Genomic medicine, |
RCV000018527 | SCV001745839 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant was identified in compound heterozygosity with a second variant in GJB2 in 2 different male patients with congenital bilateral moderate hearing loss. |
Kariminejad - |
RCV001813994 | SCV001755405 | pathogenic | Ear malformation | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000018527 | SCV001985050 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001762050 | SCV002009981 | pathogenic | Mutilating keratoderma | 2021-11-03 | criteria provided, single submitter | clinical testing | |
DASA | RCV000509532 | SCV002011886 | pathogenic | Deafness | 2021-09-02 | criteria provided, single submitter | clinical testing | The c.35delG variant is a deletion of one guanine in a sequence of six guanines in the GJB2 coding sequence leading to premature chain termination at the twelfth amino acid of the Cx26 protein p.(Gly12Valfs*2) - PVS_strong. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 16773579; 12176036) - PS3_supporting. This variant is the most common in Caucasian populations and is described as pathogenic in the specialized literature, being one of the most common variant associated with non-syndromic deafness phenotype (ClinVar ID: 17004, ClinGen: CA127023, OMIM: 121011.0005, PMID: 20301449, 16773579, 34440441) – PS4. The c.35delG was detected in trans with a pathogenic variant (PMID: 21220926, 26096904, 24039984, 14694360, 34440441, 16849369) – PM3_very strong; and co-segregated with deafnes in multiple affected family members (PMID: 16773579, 24039984, 14694360) – PP1. This variant is observed in the general population (rs80338939 - gnomAD 0,006 frequency; ABraOM 0,0098 frequency - http://abraom.ib.usp.br/). In summary, the currently available evidence indicates that the variant is pathogenic. |
3billion | RCV000018527 | SCV002058591 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 12176036, PS3_S). The variant has been observed in multiple (>3) similarly affected unrelated individuals(PMID: 25999548, 26969326, PS4_S). The variant has been reported multiple times as an established pathogenic/likely pathogenic variant (ClinVar ID: VCV000017004, PMID:9285800, 3billion dataset). The same variant was previously reported several times in trans with another pathogenic variant in this gene (PMID: 26445815, PM3_VS). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Daryl Scott Lab, |
RCV000018527 | SCV002515328 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2022-02-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000018527 | SCV002580972 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2022-07-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496400 | SCV002777478 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher | 2021-10-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018527 | SCV000038809 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2012-10-05 | no assertion criteria provided | literature only | |
OMIM | RCV000018528 | SCV000038810 | pathogenic | Deafness, digenic, GJB2/GJB6 | 2012-10-05 | no assertion criteria provided | literature only | |
Gene |
RCV000018527 | SCV000041047 | not provided | Autosomal recessive nonsyndromic hearing loss 1A | no assertion provided | literature only | ||
Division of Human Genetics, |
RCV000018527 | SCV000238466 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2015-03-20 | no assertion criteria provided | research | The GJB2 variant (c.35delG, p.Gly12Valfs*2) identified in this patient is a frameshift variant, reported to be the most common pathogenic variant in individuals with European ancestry (Carrasquillo et al. 1997, PMID: 9328482; Denoyelle et al. 1997, PMID: 9336442; Zelante et al. 1997, PMID: 9285800; Green et al. 1999, PMID: 10376574; Gasparini et al. 2000, PMID: 10713883; Kenneson et al. 2002, PMID: 12172392; Bouwer et al. 2007, PMID: 18294064). |
Centre for Mendelian Genomics, |
RCV000415175 | SCV000492702 | pathogenic | Severe sensorineural hearing impairment | 2016-01-04 | no assertion criteria provided | clinical testing | |
Division of Human Genetics, |
RCV000477882 | SCV000536698 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A | 2014-10-31 | no assertion criteria provided | research | |
Genome |
RCV000509463 | SCV000607350 | not provided | Nonsyndromic Hearing Loss, Recessive | no assertion provided | phenotyping only | Variant identified in multiple participants. Variant interpreted as Pathogenic and reported on 10-31-2014 by Lab or GTR ID 50489, reported on 03-17-2020 by Lab or GTR ID 21766, and reported on 11/16/2015 by GTR ID 165021. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Clinical Molecular Genetics Laboratory, |
RCV000678860 | SCV000805053 | pathogenic | Hearing loss | 2017-02-22 | no assertion criteria provided | clinical testing | |
Center for Statistical Genetics, |
RCV000146019 | SCV000853303 | pathogenic | Hearing impairment | 2018-11-22 | no assertion criteria provided | research | |
Genetic Testing Center for Deafness, |
RCV000018527 | SCV000902318 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2019-02-26 | no assertion criteria provided | case-control | |
University of Washington Center for Mendelian Genomics, |
RCV000146019 | SCV001439097 | likely pathogenic | Hearing impairment | no assertion criteria provided | research | ||
Natera, |
RCV000018527 | SCV001455333 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2020-09-16 | no assertion criteria provided | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV001270107 | SCV001479802 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research | ||
Diagnostic Laboratory, |
RCV000080373 | SCV001741167 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genomics England Pilot Project, |
RCV001542777 | SCV001760317 | pathogenic | Knuckle pads, deafness AND leukonychia syndrome | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000080373 | SCV001972432 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000411531 | SCV002011732 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 3A | 2021-09-13 | no assertion criteria provided | clinical testing | |
Perkin |
RCV000080373 | SCV002024267 | pathogenic | not provided | 2021-09-02 | no assertion criteria provided | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV000146019 | SCV002106971 | pathogenic | Hearing impairment | 2021-01-29 | no assertion criteria provided | literature only |