Submissions for variant NM_032578.4(MYPN):c.1236C>A (p.Thr412=)

gnomAD frequency: 0.00058  dbSNP: rs151220474

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539783	SCV000659176	benign	Dilated cardiomyopathy 1KK	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617254	SCV000740098	likely benign	Cardiovascular phenotype	2016-12-21	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000539783	SCV000743681	likely benign	Dilated cardiomyopathy 1KK	2017-04-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000857771	SCV001893597	likely benign	not provided	2020-01-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491112	SCV002794626	likely benign	Dilated cardiomyopathy 1KK; MYPN-related myopathy	2021-10-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000539783	SCV000732943	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700162	SCV001922903	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000857771	SCV001956794	likely benign	not provided		no assertion criteria provided	clinical testing