Submissions for variant NM_032578.4(MYPN):c.2880T>G (p.Ser960=)

gnomAD frequency: 0.00096  dbSNP: rs146028308

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220024	SCV000270588	likely benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing	p.Ser960Ser in exon 14 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 0.3% (26/10398) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs146028308).
Invitae	RCV000234458	SCV000291114	benign	Dilated cardiomyopathy 1KK	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251381	SCV000320053	likely benign	Cardiovascular phenotype	2015-07-14	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.
GeneDx	RCV000220024	SCV000518057	benign	not specified	2015-12-28	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000234458	SCV000745061	likely benign	Dilated cardiomyopathy 1KK	2017-06-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000234458	SCV000732955	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000220024	SCV001923514	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706236	SCV001930920	likely benign	not provided		no assertion criteria provided	clinical testing