ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.573G>A (p.Ser191=)

dbSNP: rs761936246
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311940 SCV000672037 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2017-05-30 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 RCV000568265 SCV000691421 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Invitae RCV000635508 SCV000756922 likely benign Juvenile polyposis syndrome 2023-08-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759348 SCV000888627 likely benign not provided 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000759348 SCV001815467 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing

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