ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2517C>T (p.Phe839=)

gnomAD frequency: 0.00001  dbSNP: rs759188465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542631 SCV000629312 likely benign Retinoblastoma 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015826 SCV001176704 likely benign Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000542631 SCV004357208 likely benign Retinoblastoma 2022-05-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000542631 SCV004844751 likely benign Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing

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