ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2565C>T (p.Ser855=)

dbSNP: rs2138359118
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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 RCV001416268 SCV001618447 likely benign Retinoblastoma 2023-02-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259118 SCV002530836 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV001416268 SCV004831084 likely benign Retinoblastoma 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002259118 SCV005160592 likely benign Hereditary cancer-predisposing syndrome 2024-06-18 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.

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