ClinVar Miner

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

dbSNP: rs762805947
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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 RCV002176607 SCV002475232 benign Retinoblastoma 2024-01-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256940 SCV002530860 benign Hereditary cancer-predisposing syndrome 2022-01-26 criteria provided, single submitter curation
Ambry Genetics RCV002256940 SCV002657755 likely benign Hereditary cancer-predisposing syndrome 2022-05-23 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.
PreventionGenetics, part of Exact Sciences RCV003933657 SCV004750688 likely benign RB1-related disorder 2019-06-05 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).

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