ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.113G>A (p.Gly38Asp) (rs766529534)

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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 RCV000567067 SCV000674698 likely benign Hereditary cancer-predisposing syndrome 2017-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000472888 SCV000551811 benign Retinoblastoma 2017-12-22 criteria provided, single submitter clinical testing

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