ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.52G>T (p.Ala18Ser)

gnomAD frequency: 0.00076  dbSNP: rs528218090
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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 RCV000226647 SCV000284629 benign Retinoblastoma 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568995 SCV000674713 benign Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
Sema4, Sema4 RCV000568995 SCV002530852 benign Hereditary cancer-predisposing syndrome 2021-01-04 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000226647 SCV004846297 benign Retinoblastoma 2024-09-27 criteria provided, single submitter clinical testing

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