ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.129T>A (p.Pro43=)

dbSNP: rs1304775415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010844 SCV001171098 likely benign Hereditary cancer-predisposing syndrome 2018-10-05 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.
Invitae RCV001461695 SCV001665601 likely benign Retinoblastoma 2023-10-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001461695 SCV004847073 likely benign Retinoblastoma 2023-10-23 criteria provided, single submitter clinical testing

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