ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1492T>C (p.Leu498=) (rs1057520520)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427335 SCV000515837 likely benign not specified 2018-03-16 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 RCV000679586 SCV000556151 likely benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Color RCV000579788 SCV000686524 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679586 SCV000806694 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679586 SCV000889844 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing

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