Submissions for variant NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) (rs201016285)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000155802	SCV000205513	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing	p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201016285).
Ambry Genetics	RCV000244312	SCV000319078	benign	Cardiovascular phenotype	2018-09-06	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx	RCV000155802	SCV000515729	benign	not specified	2017-01-12	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.
Invitae	RCV000756392	SCV000557918	benign	Familial hypertrophic cardiomyopathy 14	2019-12-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000155802	SCV000884191	benign	not specified	2018-09-20	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego	RCV000852693	SCV000995403	benign	Cardiomyopathy	2019-04-01	criteria provided, single submitter	clinical testing