ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.228A>G (p.Arg76=) (rs587780556)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000760074 SCV000153975 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165905 SCV000216660 likely benign Hereditary cancer-predisposing syndrome 2014-09-26 criteria provided, single submitter clinical testing
Color RCV000165905 SCV000686535 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000601814 SCV000730037 benign not specified 2015-06-29 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760074 SCV000889848 benign not provided 2018-08-10 criteria provided, single submitter clinical testing

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