ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.966T>C (p.Tyr322=)

gnomAD frequency: 0.00002  dbSNP: rs1465916558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546621 SCV000632816 likely benign Juvenile polyposis syndrome 2023-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377042 SCV002689142 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2020-04-03 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478135 SCV004220369 likely benign not provided 2022-12-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584652 SCV004362360 likely benign Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing

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