Submissions for variant NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)

gnomAD frequency: 0.00326  dbSNP: rs145292219

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217005	SCV000269316	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gly462Asp in Exon 02 of MYO15A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (32/6856) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs145292219).
Eurofins Ntd Llc (ga)	RCV000217005	SCV000345452	likely benign	not specified	2016-08-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000884205	SCV000726387	benign	not provided	2019-02-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24498627)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884205	SCV001027562	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128290	SCV001287712	likely benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000884205	SCV002545891	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	MYO15A: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000884205	SCV005212290	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000884205	SCV001958392	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000884205	SCV001968654	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917874	SCV004735676	likely benign	MYO15A-related disorder	2020-10-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).