ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)

dbSNP: rs367578442
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457901 SCV000562081 benign Retinoblastoma 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572000 SCV000674719 benign Hereditary cancer-predisposing syndrome 2021-01-29 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000457901 SCV001270238 uncertain significance Retinoblastoma 2017-04-27 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001570931 SCV001795306 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 24791139, 29192238)
Sema4, Sema4 RCV000572000 SCV002530808 likely benign Hereditary cancer-predisposing syndrome 2020-12-14 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003905163 SCV004718790 likely benign RB1-related disorder 2020-05-26 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).
ITMI RCV000121920 SCV000086125 not provided not specified 2013-09-19 no assertion provided reference population

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