ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1371A>G (p.Ala457=)

gnomAD frequency: 0.00001  dbSNP: rs750933193
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468882 SCV000556160 likely benign Juvenile polyposis syndrome 2022-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311783 SCV000672003 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2016-06-02 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 RCV000570305 SCV000686519 likely benign Hereditary cancer-predisposing syndrome 2017-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001591112 SCV001816757 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570305 SCV002538301 likely benign Hereditary cancer-predisposing syndrome 2022-02-27 criteria provided, single submitter curation

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