ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1494T>C (p.Tyr498=)

gnomAD frequency: 0.00001  dbSNP: rs768929728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875149 SCV001017435 benign Retinoblastoma 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390832 SCV002700491 likely benign Hereditary cancer-predisposing syndrome 2020-01-21 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.
All of Us Research Program, National Institutes of Health RCV000875149 SCV004844675 likely benign Retinoblastoma 2023-12-18 criteria provided, single submitter clinical testing

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