ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.354T>A (p.Thr118=)

dbSNP: rs951251256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020579 SCV001182078 likely benign Hereditary cancer-predisposing syndrome 2017-12-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001069942 SCV001235142 likely benign Retinoblastoma 2024-10-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001020579 SCV002530845 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV001069942 SCV004847090 likely benign Retinoblastoma 2024-09-16 criteria provided, single submitter clinical testing

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