ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1452G>C (p.Leu484=)

dbSNP: rs1555687538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311932 SCV000672027 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2016-12-01 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.
Invitae RCV001496855 SCV001701568 likely benign Juvenile polyposis syndrome 2023-10-10 criteria provided, single submitter clinical testing

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