ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.183A>C (p.Ile61=)

gnomAD frequency: 0.00001  dbSNP: rs761937143
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232877 SCV000288873 likely benign Juvenile polyposis syndrome 2023-09-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775639 SCV000910015 likely benign Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318974 SCV001173888 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2019-12-04 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 RCV000775639 SCV002538313 likely benign Hereditary cancer-predisposing syndrome 2021-09-09 criteria provided, single submitter curation

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