ClinVar Miner

Submissions for variant NC_000005.10:g.(?_179343757)_(179345338_?)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 RCV001031691 SCV001194997 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-04-11 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-2 of the ADAMTS2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the ADAMTS2 gene. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with ADAMTS2-related disease. 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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