ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.840A>G (p.Glu280=)

gnomAD frequency: 0.00005  dbSNP: rs762092062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476412 SCV001680620 likely benign Retinoblastoma 2022-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444979 SCV002677752 likely benign Hereditary cancer-predisposing syndrome 2022-06-15 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 RCV001476412 SCV004834806 likely benign Retinoblastoma 2023-12-18 criteria provided, single submitter clinical testing

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