ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.341C>T (p.Ser114Leu)

gnomAD frequency: 0.00001  dbSNP: rs139673557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632935 SCV000754142 benign Retinoblastoma 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020260 SCV001181715 likely benign Hereditary cancer-predisposing syndrome 2023-08-07 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.
All of Us Research Program, National Institutes of Health RCV000632935 SCV004847089 likely benign Retinoblastoma 2023-05-31 criteria provided, single submitter clinical testing

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