ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) (rs142509759)

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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 RCV000566730 SCV000674701 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification,In silico models in agreement (benign)
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034595 SCV000043465 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034595 SCV000203390 uncertain significance not provided 2014-05-06 criteria provided, single submitter clinical testing
Invitae RCV000227542 SCV000284618 benign Retinoblastoma 2018-01-05 criteria provided, single submitter clinical testing

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