ClinVar Miner

Submissions for variant NC_000013.11:g.(?_48342599)_(48345199_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462833 SCV000564001 pathogenic Retinoblastoma 2016-11-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-4 of the RB1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with bilateral Retinoblastoma (PMID: 20090211). For these reasons, this variant has been classified as Pathogenic.

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