ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.78G>C (p.Pro26=)

gnomAD frequency: 0.00001  dbSNP: rs1389899415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002088688 SCV002388200 likely benign Retinoblastoma 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002423347 SCV002681105 likely benign Hereditary cancer-predisposing syndrome 2021-04-01 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.

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