ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.608-4del (rs762805947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363829 SCV000384538 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574026 SCV000674708 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000843883 SCV000985928 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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