ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)

gnomAD frequency: 0.00264  dbSNP: rs188485743
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Total submissions: 7
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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 RCV000155200 SCV000204886 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Phe3414Phe in Exon 64 of MYO15A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.4% (27/6864) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000155200 SCV000707737 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000954756 SCV000732309 benign not provided 2018-08-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24498627)
Labcorp Genetics (formerly Invitae), Labcorp RCV000954756 SCV001101412 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000954756 SCV001144640 benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123269 SCV001282092 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.
CeGaT Center for Human Genetics Tuebingen RCV000954756 SCV004033542 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MYO15A: BS2

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