Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000323567 | SCV000341817 | likely benign | not specified | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312671 | SCV000401146 | 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. |
ARUP Laboratories, |
RCV000312671 | SCV000604400 | benign | Autosomal recessive nonsyndromic hearing loss 3 | 2020-04-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000323567 | SCV000711132 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Arg1630Cys in Exon 17 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (23/3496) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs138861831). |
Labcorp Genetics |
RCV000959372 | SCV001106275 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000959372 | SCV001144646 | likely benign | not provided | 2019-02-22 | criteria provided, single submitter | clinical testing | |
National Institute on Deafness and Communication Disorders, |
RCV001543604 | SCV001519340 | uncertain significance | Childhood onset hearing loss | 2021-07-08 | criteria provided, single submitter | research | PM1, PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging. |
Gene |
RCV000959372 | SCV001750917 | benign | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing |