ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.816G>A (p.Arg272=)

dbSNP: rs1231028123
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635496 SCV000756910 likely benign Juvenile polyposis syndrome 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448965 SCV001189765 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001027241 SCV001360146 likely benign Hereditary cancer-predisposing syndrome 2018-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001712772 SCV001943839 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing

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