Submissions for variant NM_017433.5(MYO3A):c.1777-14G>T

gnomAD frequency: 0.00409  dbSNP: rs4592324

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151458	SCV000199494	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	1777-14G>T in Intron 17 of MYO3A: This variant is not expected to have clinical significance because it has been identified in 1.1% (41/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs4592324).
Illumina Laboratory Services, Illumina	RCV001104176	SCV001261018	uncertain significance	Autosomal recessive nonsyndromic hearing loss 30	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001589006	SCV001824349	likely benign	not provided	2018-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001589006	SCV002440195	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935272	SCV004752420	benign	MYO3A-related disorder	2019-06-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).