ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004017167 SCV004844728 uncertain significance Retinoblastoma 2023-10-02 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of glutamic acid at position 748 in the RB1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 1/249754 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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