ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2277C>T (p.Val759=)

gnomAD frequency: 0.00001  dbSNP: rs1949430859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002276381 SCV002563172 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing RB1: BP4, BP7
Ambry Genetics RCV002443288 SCV002733319 likely benign Hereditary cancer-predisposing syndrome 2019-08-06 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 RCV004005579 SCV004844731 likely benign Retinoblastoma 2023-08-15 criteria provided, single submitter clinical testing

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