Submissions for variant NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=)

gnomAD frequency: 0.00710  dbSNP: rs190695624

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037052	SCV000060708	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala1956Ala in Exon 42 of MYH14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.0% (68/6808) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics, part of Exact Sciences	RCV000037052	SCV000306878	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350685	SCV000414460	benign	Autosomal dominant nonsyndromic hearing loss 4A	2018-01-13	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	RCV000037052	SCV000714939	benign	not specified	2017-11-16	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	RCV000756387	SCV000884182	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756387	SCV001102483	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756387	SCV002822591	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	MYH14: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000756387	SCV005309812	benign	not provided		criteria provided, single submitter	not provided