ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.33C>T (p.Ala11=)

dbSNP: rs1593411999
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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 RCV001429136 SCV001631848 likely benign Retinoblastoma 2022-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454180 SCV002612630 likely benign Hereditary cancer-predisposing syndrome 2022-06-02 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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