Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781417 | SCV000919433 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000781417 | SCV000967229 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Asn170Asn in exon 2 of GJB2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8638 East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs763068053). |
Illumina Laboratory Services, |
RCV001113810 | SCV001271606 | benign | Ichthyosis, hystrix-like, with hearing loss | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001113811 | SCV001271607 | likely benign | Autosomal dominant nonsyndromic hearing loss 3A | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001113812 | SCV001271608 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001436900 | SCV001639745 | likely benign | not provided | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975319 | SCV004794403 | likely benign | GJB2-related condition | 2019-09-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001113812 | SCV002086040 | likely benign | Autosomal recessive nonsyndromic hearing loss 1A | 2019-11-11 | no assertion criteria provided | clinical testing |