ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034596 SCV000284626 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
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
Mendelics RCV000989108 SCV001139307 uncertain significance Retinoblastoma 2019-05-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics 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.

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