ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.399C>T (p.Asn133=)

gnomAD frequency: 0.00001  dbSNP: rs765277265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468583 SCV000562088 likely benign Retinoblastoma 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374868 SCV002625667 likely benign Hereditary cancer-predisposing syndrome 2019-06-06 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 RCV000468583 SCV004847093 likely benign Retinoblastoma 2023-10-02 criteria provided, single submitter clinical testing

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