ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.891T>C (p.His297=)

dbSNP: rs1384477319
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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 RCV001494649 SCV001699309 likely benign Juvenile polyposis syndrome 2023-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995905 SCV005503046 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2024-08-19 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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