ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.84A>G (p.Gln28=)

gnomAD frequency: 0.00003  dbSNP: rs778465458
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086440 SCV000632808 likely benign Juvenile polyposis syndrome 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311856 SCV000671969 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2015-02-04 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.
Color Diagnostics, LLC DBA Color Health RCV000572232 SCV000691439 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000679592 SCV000806705 likely benign not provided 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000679592 SCV001855310 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476125 SCV002046586 benign not specified 2021-01-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572232 SCV002538352 likely benign Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter curation

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