ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2490-10_2490-6del

dbSNP: rs1224162129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257178 SCV002530830 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004005560 SCV004816495 uncertain significance Retinoblastoma 2023-04-03 criteria provided, single submitter clinical testing This variant causes a 5 nucleotide deletion from position -6 to -10 in intron 23 of the RB1 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. However, this prediction has not been confirmed in published RNA studies. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 1/250306 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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