ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)

gnomAD frequency: 0.00658  dbSNP: rs140029076
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Total submissions: 9
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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 RCV000038997 SCV000062675 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu3160Phe in Exon 57 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (54/6912) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs140029076).
Eurofins Ntd Llc (ga) RCV000038997 SCV000231404 benign not specified 2014-10-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513683 SCV000610588 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000513683 SCV000730610 benign not provided 2019-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17546645, 25792667, 27018795, 25262649, 24498627, 24130743, 20440071, 27375115, 25587757, 30245029)
CeGaT Center for Human Genetics Tuebingen RCV000513683 SCV000892523 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MYO15A: BS2
Invitae RCV000513683 SCV001104365 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000989772 SCV001140325 likely benign Autosomal recessive nonsyndromic hearing loss 3 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989772 SCV001283187 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-03-08 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.
Molecular Diagnosis Center for Deafness RCV000989772 SCV001984971 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing

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