ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2679A>G (p.Gly893=)

gnomAD frequency: 0.00003  dbSNP: rs751718011
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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 RCV001016289 SCV001177228 likely benign Hereditary cancer-predisposing syndrome 2019-09-30 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 RCV001472389 SCV001676521 likely benign Retinoblastoma 2023-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001472389 SCV004844770 likely benign Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing

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