ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu)

gnomAD frequency: 0.00076  dbSNP: rs138583865
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001699224 SCV000236072 likely benign not provided 2021-10-11 criteria provided, single submitter clinical testing
Invitae RCV000549746 SCV000659188 likely benign Dilated cardiomyopathy 1KK 2024-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183603 SCV000711511 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing p.Pro743Leu in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (23/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs138583865).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001699224 SCV002048167 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426885 SCV002726306 likely benign Cardiovascular phenotype 2018-12-14 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.
Clinical Genetics, Academic Medical Center RCV001699224 SCV001922540 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699224 SCV001958186 likely benign not provided no assertion criteria provided clinical testing

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