ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.390A>G (p.Pro130=)

gnomAD frequency: 0.00001  dbSNP: rs755862230
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539395 SCV000632784 likely benign Juvenile polyposis syndrome 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590505 SCV000698568 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319037 SCV001183026 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-06-20 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.
Color Diagnostics, LLC DBA Color Health RCV001021412 SCV001355789 likely benign Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800741 SCV002047025 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing

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