Submissions for variant NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu)

gnomAD frequency: 0.01884  dbSNP: rs11669191

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037044	SCV000060700	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Ala1250Glu in Exon 29 of MYH14: This variant is not expected to have clinical si gnificance because it has been identified in 3.0% (209/6938) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11669191).
Eurofins Ntd Llc (ga)	RCV000037044	SCV000340969	benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357017	SCV000414426	benign	Autosomal dominant nonsyndromic hearing loss 4A	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000037044	SCV000729969	benign	not specified	2017-12-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756384	SCV000884179	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000756384	SCV001144628	benign	not provided	2018-12-07	criteria provided, single submitter	clinical testing
Invitae	RCV000756384	SCV002332345	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037044	SCV001920107	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037044	SCV001953093	benign	not specified		no assertion criteria provided	clinical testing