ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)

dbSNP: rs3814182
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001584192 SCV004225257 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing BP4
GeneDx RCV001584192 SCV001814076 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619222 SCV000735870 likely benign Cardiovascular phenotype 2024-07-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463865 SCV000563298 likely benign Dilated cardiomyopathy 1KK 2025-01-12 criteria provided, single submitter clinical testing

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