ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.297G>A (p.Trp99Ter) (rs794727481)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492718 SCV000580870 pathogenic Hereditary cancer-predisposing syndrome 2016-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177038 SCV000228850 pathogenic not provided 2014-11-13 criteria provided, single submitter clinical testing

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