ClinVar Miner

Submissions for variant NC_000013.10:g.(?_49027115)_(49054207_?)dup

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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 RCV001307933 SCV001497361 uncertain significance Retinoblastoma 2020-04-28 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. A similar copy number gain has been observed in individual(s) with RB1-related conditions (PMID: 19280657). This variant results in a copy number gain of the genomic region encompassing exon(s) 18-27 of the RB1 gene. The 5' boundary is likely confined to intron 17. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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