ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)

gnomAD frequency: 0.00004  dbSNP: rs367668687
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465473 SCV000551830 benign Retinoblastoma 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013560 SCV001174165 likely benign Hereditary cancer-predisposing syndrome 2021-11-03 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 RCV001013560 SCV002530811 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter curation
GeneDx RCV003227760 SCV003924770 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486, Dayalan_2006_Review, 24686850, 35434667)
All of Us Research Program, National Institutes of Health RCV000465473 SCV004844706 likely benign Retinoblastoma 2023-12-18 criteria provided, single submitter clinical testing

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