Submissions for variant NM_032578.4(MYPN):c.1790G>A (p.Arg597His)

gnomAD frequency: 0.00158  dbSNP: rs150911078

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172573	SCV000054739	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Eurofins Ntd Llc (ga)	RCV000172573	SCV000225084	uncertain significance	not provided	2015-05-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000172573	SCV000236054	likely benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000183585	SCV000270583	likely benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing	p.Arg597His in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (44/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150911078).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087174	SCV000291111	benign	Dilated cardiomyopathy 1KK	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621697	SCV000735697	likely benign	Cardiovascular phenotype	2017-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000172573	SCV000987494	likely benign	not provided		criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852610	SCV000995313	likely benign	Cardiomyopathy	2019-01-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000183585	SCV004038576	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000183585	SCV001978935	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172573	SCV001979724	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965237	SCV004782510	likely benign	MYPN-related disorder	2021-11-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).