ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2550A>G (p.Arg850=)

dbSNP: rs886039109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870633 SCV001012154 likely benign Dilated cardiomyopathy 1KK 2022-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249861 SCV000320084 likely benign Cardiovascular phenotype 2015-09-15 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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