Submissions for variant NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) (rs727503199)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000151123	SCV000198899	likely benign	not specified	2013-05-31	criteria provided, single submitter	clinical testing	Gly531Gly in exon 17 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Gly531Gly in exon 17 of MYBPC3 (allele freq uency = n/a)
GeneDx	RCV000151123	SCV000729092	likely benign	not specified	2017-06-19	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.
Ambry Genetics	RCV000620223	SCV000735756	likely benign	Cardiovascular phenotype	2017-01-26	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000608015	SCV000743560	likely benign	Familial hypertrophic cardiomyopathy 4	2016-11-04	criteria provided, single submitter	clinical testing
Color	RCV001182269	SCV001347662	likely benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000608015	SCV000733049	likely benign	Familial hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing