ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.69G>C (p.Pro23=)

dbSNP: rs746662122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219242 SCV002376908 likely benign Retinoblastoma 2023-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361474 SCV002665683 likely benign Hereditary cancer-predisposing syndrome 2021-10-14 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 RCV002219242 SCV004846301 benign Retinoblastoma 2023-12-01 criteria provided, single submitter clinical testing

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