Submissions for variant NM_032578.4(MYPN):c.1935C>T (p.Pro645=)

gnomAD frequency: 0.00056  dbSNP: rs71535754

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214651	SCV000270584	likely benign	not specified	2015-10-20	criteria provided, single submitter	clinical testing	p.Pro645Pro in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (78/65720) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs71535754).
Ambry Genetics	RCV000254442	SCV000319003	likely benign	Cardiovascular phenotype	2017-10-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000024498	SCV000515719	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing
Invitae	RCV000477347	SCV000563294	benign	Dilated cardiomyopathy 1KK	2024-01-22	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000477347	SCV000745053	likely benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000024498	SCV001250227	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MYPN: BP4, BP7
Leiden Muscular Dystrophy (MYPN)	RCV000024498	SCV000045802	not provided	not provided	2012-04-27	no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000477347	SCV000732951	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000214651	SCV001923729	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000214651	SCV001927272	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000214651	SCV001954380	benign	not specified		no assertion criteria provided	clinical testing