ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.862-15C>A

gnomAD frequency: 0.00442  dbSNP: rs115108608
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333631 SCV000384540 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000615711 SCV000715896 likely benign not specified 2017-02-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000333631 SCV002491351 benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000333631 SCV004017261 likely benign Retinoblastoma 2023-07-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000333631 SCV004822647 benign Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing

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