ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.608-4del

dbSNP: rs762805947
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363829 SCV000384538 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574026 SCV000674708 likely benign Hereditary cancer-predisposing syndrome 2020-07-06 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.
GeneDx RCV000843883 SCV000985928 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000843883 SCV001961411 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RB1: BP4, BS2
Invitae RCV000363829 SCV002435249 benign Retinoblastoma 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574026 SCV002530859 likely benign Hereditary cancer-predisposing syndrome 2021-01-10 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469125 SCV002766017 benign not specified 2022-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940208 SCV004750591 likely benign RB1-related disorder 2021-12-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000363829 SCV004819162 benign Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing

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