ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.602A>T (p.Gln201Leu) (rs587778682)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567743 SCV000663979 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
ITMI RCV000122064 SCV000086275 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000471596 SCV000548444 likely benign Rhabdoid tumor predisposition syndrome 2 2018-01-03 criteria provided, single submitter clinical testing

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