ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3813C>A (p.Ile1271=)

gnomAD frequency: 0.00001  dbSNP: rs777067913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720121 SCV000521800 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000655066 SCV000776989 likely benign Dilated cardiomyopathy 1KK 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649150 SCV005146181 likely benign Cardiovascular phenotype 2024-05-19 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.

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