Submissions for variant NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)

gnomAD frequency: 0.00460  dbSNP: rs200351672

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037035	SCV000060691	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Arg931His in Exon 23 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (40/3424) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs143644388).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000037035	SCV000257807	benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000037035	SCV000339733	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267105	SCV000414407	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.
Invitae	RCV000969325	SCV001116836	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000969325	SCV001144624	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000969325	SCV001477641	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000969325	SCV001887767	benign	not provided	2018-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000969325	SCV004140516	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	MYH14: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000969325	SCV001921349	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037035	SCV001967334	benign	not specified		no assertion criteria provided	clinical testing