ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1311T>C (p.Gly437=)

dbSNP: rs759207520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430939 SCV001633688 likely benign Retinoblastoma 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384645 SCV002693626 likely benign Hereditary cancer-predisposing syndrome 2020-02-27 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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