ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1632G>A (p.Pro544=) (rs549489716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617136 SCV000671999 likely benign Cardiovascular phenotype 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000564724 SCV000686526 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000615584 SCV000729071 likely benign not specified 2017-07-13 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 RCV000460479 SCV000556156 likely benign Juvenile polyposis syndrome 2017-12-17 criteria provided, single submitter clinical testing

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