ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3420C>T (p.Asp1140=)

gnomAD frequency: 0.00004  dbSNP: rs200786762
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655053 SCV000776975 likely benign Dilated cardiomyopathy 1KK 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458164 SCV002614466 likely benign Cardiovascular phenotype 2019-01-18 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.
Clinical Genetics, Academic Medical Center RCV001700443 SCV001924051 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001093311 SCV001957295 likely benign not provided no assertion criteria provided clinical testing

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