ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1059C>T (p.Tyr353=) (rs863224400)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775645 SCV000910024 likely benign Hereditary cancer-predisposing syndrome 2018-02-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000424497 SCV000706694 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000424497 SCV000515482 likely benign not specified 2017-02-01 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 RCV000196990 SCV000253433 likely benign Juvenile polyposis syndrome 2017-10-16 criteria provided, single submitter clinical testing

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