ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1860G>A (p.Thr620=)

gnomAD frequency: 0.00001  dbSNP: rs750356534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866652 SCV001007778 likely benign Retinoblastoma 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013428 SCV001174011 likely benign Hereditary cancer-predisposing syndrome 2019-03-04 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.
Sema4, Sema4 RCV001013428 SCV002530807 likely benign Hereditary cancer-predisposing syndrome 2021-08-25 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000866652 SCV004844705 likely benign Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing

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