Submissions for variant NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)

gnomAD frequency: 0.01839  dbSNP: rs62620248

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172770	SCV000051582	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172770	SCV000170627	benign	not specified	2013-12-09	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	RCV000172770	SCV000269397	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Gly804Arg in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 3.5% (301/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs62620248).
Ambry Genetics	RCV000244723	SCV000317750	benign	Cardiovascular phenotype	2015-07-15	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.
Invitae	RCV000461832	SCV000563301	benign	Dilated cardiomyopathy 1KK	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000172770	SCV000740640	benign	not specified	2016-06-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000461832	SCV000743687	benign	Dilated cardiomyopathy 1KK	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000461832	SCV000745056	benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000024502	SCV001159097	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000172770	SCV003928606	likely benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYPN)	RCV000024502	SCV000045806	not provided	not provided	2012-04-27	no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000172770	SCV001923552	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172770	SCV001959852	benign	not specified		no assertion criteria provided	clinical testing