ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.132A>G (p.Val44=)

gnomAD frequency: 0.00002  dbSNP: rs965942065
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720151 SCV000522651 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Invitae RCV000475068 SCV000556144 likely benign Juvenile polyposis syndrome 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318418 SCV001171348 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-06-06 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.
Sema4, Sema4 RCV001011069 SCV002538300 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-30 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV001011069 SCV004362331 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing

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