ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)

gnomAD frequency: 0.00075  dbSNP: rs149359120
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467622 SCV000562085 benign Retinoblastoma 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492588 SCV000580829 likely benign Hereditary cancer-predisposing syndrome 2018-12-29 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.
Mendelics RCV000467622 SCV000838929 benign Retinoblastoma 2023-08-22 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761059 SCV000890974 uncertain significance B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 2016-04-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000467622 SCV001267268 benign Retinoblastoma 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001555707 SCV001777164 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23532519, 22180099)
Genetic Services Laboratory, University of Chicago RCV001821379 SCV002070324 likely benign not specified 2021-06-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000492588 SCV002530837 likely benign Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001555707 SCV004562060 likely benign not provided 2023-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925378 SCV004745638 likely benign RB1-related disorder 2022-08-26 no assertion criteria provided 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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