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

dbSNP: rs3814182

Total submissions: 11

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: seen in unaffected individuals, 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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084265	SCV001000084	benign	Dilated cardiomyopathy 1KK	2025-02-03	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
Breakthrough Genomics, Breakthrough Genomics	RCV000024501	SCV005318795	benign	not provided		criteria provided, single submitter	not provided
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