ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5532-10C>T

gnomAD frequency: 0.00062  dbSNP: rs200169924
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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 RCV000151395 SCV000199403 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing c.5532-10C>T in intron 22 of MYO15A: This variant is not expected to have clinic al significance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has b een identified in 0.1% (119/126584) of European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200169924).
Labcorp Genetics (formerly Invitae), Labcorp RCV000885092 SCV001028518 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123946 SCV001282837 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.
GeneDx RCV000885092 SCV001790120 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing

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