ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.747G>C (p.Gln249His)

gnomAD frequency: 0.00014  dbSNP: rs372095620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939633 SCV001085482 likely benign Juvenile polyposis syndrome 2019-05-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258061 SCV002538345 likely benign Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation
Ambry Genetics RCV003169417 SCV003895996 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2023-03-02 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.

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