ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.102A>G (p.Thr34=)

gnomAD frequency: 0.00032  dbSNP: rs146104321
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162365 SCV000212671 likely benign Hereditary cancer-predisposing syndrome 2014-12-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Counsyl RCV000409431 SCV000489157 likely benign Generalized juvenile polyposis/juvenile polyposis coli 2016-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000438148 SCV000514701 benign not specified 2015-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001507225 SCV000556149 benign Juvenile polyposis syndrome 2021-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162365 SCV000686511 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679583 SCV000806687 likely benign not provided 2017-01-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679583 SCV001134821 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438148 SCV001737835 benign not specified 2021-05-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000438148 SCV002067409 likely benign not specified 2019-07-01 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000162365 SCV002538290 benign Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter curation

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