ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.876C>T (p.Pro292=)

gnomAD frequency: 0.00039  dbSNP: rs368755362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219642 SCV000269331 benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Pro292Pro in exon 2 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (95/8438) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs368755362).
Illumina Laboratory Services, Illumina RCV000407530 SCV000401096 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-01-12 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.
GeneDx RCV001722149 SCV000725228 benign not provided 2019-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001722149 SCV002366357 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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