Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151386 | SCV000199393 | benign | not specified | 2013-05-06 | criteria provided, single submitter | clinical testing | Gly1220Arg in exon 3 of MYO15A: This variant is not expected to have clinical si gnificance because it has been identified in 1% (22/2178) of chromosomes by the 1000 Genomes Project (dbSNP rs146754758) and most mammals, including other prima tes, carry an arginine (Arg) at this position. |
Prevention |
RCV000151386 | SCV000312642 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000879416 | SCV001022446 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001126424 | SCV001285619 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 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 |
RCV000879416 | SCV001949657 | benign | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23865914) |
Molecular Diagnosis Center for Deafness | RCV001126424 | SCV002011797 | benign | Autosomal recessive nonsyndromic hearing loss 3 | criteria provided, single submitter | case-control |