ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) (rs4151534)

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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 RCV000492701 SCV000580795 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000229330 SCV000384544 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229330 SCV000284610 benign Retinoblastoma 2017-12-27 criteria provided, single submitter clinical testing

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