ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.411A>T (p.Glu137Asp) (rs3092902)

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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 RCV000570544 SCV000664578 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034596 SCV000043463 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Invitae RCV000226125 SCV000284626 benign Retinoblastoma 2017-12-18 criteria provided, single submitter clinical testing

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