ClinVar Miner

Submissions for variant NC_000017.10:g.(?_73824046)_(73830244_?)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 RCV003113996 SCV003795300 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-03-13 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 24-32 of the UNC13D gene. This region includes the termination codon of the gene. This copy number gain 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. This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. 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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