ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1299A>G (p.Ala433=)

gnomAD frequency: 0.00001  dbSNP: rs370558697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584564 SCV000691394 likely benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing
Invitae RCV000635507 SCV000756921 likely benign Juvenile polyposis syndrome 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384279 SCV002689790 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2020-02-26 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.

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