ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1464G>A (p.Ala488=)

gnomAD frequency: 0.00002  dbSNP: rs753520981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561081 SCV000674720 likely benign Hereditary cancer-predisposing syndrome 2017-07-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001398744 SCV001600519 likely benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561081 SCV002530791 likely benign Hereditary cancer-predisposing syndrome 2020-10-19 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003905494 SCV004719281 likely benign RB1-related disorder 2021-12-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV001398744 SCV004844670 benign Retinoblastoma 2023-11-02 criteria provided, single submitter clinical testing

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