ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.573G>A (p.Ser191=) (rs761936246)

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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 RCV000568265 SCV000672037 likely benign Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000568265 SCV000691421 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Invitae RCV000635508 SCV000756922 likely benign Juvenile polyposis syndrome 2017-12-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759348 SCV000888627 likely benign not provided 2017-09-22 criteria provided, single submitter clinical testing

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