ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly)

gnomAD frequency: 0.00012  dbSNP: rs150181830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001124371 SCV001283318 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517572 SCV001726094 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001517572 SCV001827169 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30896630, 30953472, 23865914)

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