Submissions for variant NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg)

dbSNP: rs3814182

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172769	SCV000051581	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172769	SCV000170626	benign	not specified	2013-11-20	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000172769	SCV000269396	benign	not specified	2014-10-29	criteria provided, single submitter	clinical testing	p.Ser803Arg in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 55% (4738/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs3814182).
Ambry Genetics	RCV000244252	SCV000317621	benign	Cardiovascular phenotype	2015-06-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000172769	SCV000740634	benign	not specified	2016-05-13	criteria provided, single submitter	clinical testing
Invitae	RCV001084265	SCV001000084	benign	Dilated cardiomyopathy 1KK	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000172769	SCV003928610	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYPN)	RCV000024501	SCV000045805	not provided	not provided	2012-04-27	no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000172769	SCV001921207	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172769	SCV001957236	benign	not specified		no assertion criteria provided	clinical testing