Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000313005 | SCV000363953 | uncertain significance | CDH23-Related Disorders | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000367632 | SCV000363954 | uncertain significance | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000263857 | SCV000363955 | uncertain significance | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000406507 | SCV000483111 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000298268 | SCV000483112 | likely benign | Atypical Gaucher Disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000350786 | SCV000483113 | likely benign | Metachromatic leukodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000404504 | SCV000483114 | likely benign | Encephalopathy due to prosaposin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000612885 | SCV000731723 | uncertain significance | not specified | 2017-06-26 | criteria provided, single submitter | clinical testing | The p.Gly3287Asp variant in CDH23 has not been previously reported in individual s with hearing loss. It has been reported in ClinVar (Variation ID 300477) with conflicting interpretations. It has also been identified in 0.1% (12/17020) East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs562590210). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic ro le. Computational prediction tools and conservation analyses do not provide stro ng support for or against an impact to the protein. In summary, the clinical sig nificance of the p.Gly3287Asp variant is uncertain. |
Illumina Laboratory Services, |
RCV001105176 | SCV001262100 | uncertain significance | Usher syndrome type 1D | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV001105177 | SCV001262101 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV002051835 | SCV002319037 | uncertain significance | not provided | 2022-03-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001833437 | SCV002086364 | uncertain significance | Usher syndrome type 1 | 2020-02-13 | no assertion criteria provided | clinical testing |