ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1707A>G (p.Leu569=)

gnomAD frequency: 0.00052  dbSNP: rs3092895
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397463 SCV000384550 likely benign Retinoblastoma 2019-01-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000397463 SCV000562097 benign Retinoblastoma 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562366 SCV000674700 likely benign Hereditary cancer-predisposing syndrome 2015-11-24 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.
CeGaT Center for Human Genetics Tuebingen RCV000658678 SCV000780463 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing RB1: BP4, BP7
Sema4, Sema4 RCV000562366 SCV002530802 benign Hereditary cancer-predisposing syndrome 2021-01-13 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV000397463 SCV004357204 benign Retinoblastoma 2022-04-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000397463 SCV004844692 benign Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing

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