ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.363G>A (p.Gln121=)

dbSNP: rs777410222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001438047 SCV001640914 likely benign Retinoblastoma 2019-11-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258257 SCV002530846 likely benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation
Ambry Genetics RCV002258257 SCV005160482 likely benign Hereditary cancer-predisposing syndrome 2024-05-31 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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