ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe)

gnomAD frequency: 0.00001  dbSNP: rs373101027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621402 SCV000736521 likely benign Cardiovascular phenotype 2020-10-12 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.
Invitae RCV000861131 SCV001001359 likely benign Dilated cardiomyopathy 1KK 2024-01-17 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293105 SCV001434089 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research

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