Submissions for variant NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)

gnomAD frequency: 0.00004  dbSNP: rs146280945

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536376	SCV000659207	likely benign	Dilated cardiomyopathy 1KK	2023-12-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000536376	SCV000743692	likely benign	Dilated cardiomyopathy 1KK	2017-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350398	SCV002620259	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000536376	SCV000732959	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701089	SCV001920919	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724064	SCV001958360	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724064	SCV001975727	likely benign	not provided		no assertion criteria provided	clinical testing