ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) (rs367578442)

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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 RCV000572000 SCV000674719 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
ITMI RCV000121920 SCV000086125 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000457901 SCV000562081 benign Retinoblastoma 2017-12-04 criteria provided, single submitter clinical testing

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