ClinVar Miner

Submissions for variant NC_000013.10:g.(?_48615046)_(48930735_?)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 RCV003111008 SCV003792133 uncertain significance Retinoblastoma 2022-05-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-6 of the RB1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). A similar copy number variant has been observed in individual(s) with retinoblastoma (PMID: 14722923). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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