Submissions for variant NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)

gnomAD frequency: 0.01059  dbSNP: rs111965755

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172771	SCV000051583	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172771	SCV000170628	benign	not specified	2014-03-18	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000172771	SCV000269398	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Pro816Leu in exon 12 of MYPN: This variant is not expected to have clinical sign ificance because it has been identified in 3.5% (155/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs111965755).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230526	SCV000291113	benign	Dilated cardiomyopathy 1KK	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617579	SCV000735663	benign	Cardiovascular phenotype	2015-09-29	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000230526	SCV000743688	benign	Dilated cardiomyopathy 1KK	2016-10-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000230526	SCV000745058	benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812100	SCV002049951	benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000172771	SCV004038569	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812100	SCV005318797	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000172771	SCV001926092	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172771	SCV001952620	benign	not specified		no assertion criteria provided	clinical testing