ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2570G>A (p.Arg857His)

gnomAD frequency: 0.00013  dbSNP: rs144668210
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552996 SCV000629313 benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563507 SCV000674706 likely benign Hereditary cancer-predisposing syndrome 2018-11-01 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 RCV000563507 SCV002530839 likely benign Hereditary cancer-predisposing syndrome 2021-04-29 criteria provided, single submitter curation
GeneDx RCV002510914 SCV002820715 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing 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

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