ClinVar Miner

Submissions for variant NC_000013.10:g.(?_49046098)_(49047536_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111007 SCV003792132 pathogenic Retinoblastoma 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with bilateral and unilateral retinoblastoma (PMID: 8118465, 15591264). In at least one individual the variant was observed to be de novo. This variant is a gross deletion of the genomic region encompassing exon(s) 24 of the RB1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365).

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