ClinVar Miner

Submissions for variant NC_000001.10:g.(?_193172925)_(193223945_?)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 RCV000465268 SCV000563782 uncertain significance Parathyroid carcinoma 2016-09-05 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 11-17 of the CDC73 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This duplication has not been reported in the literature in individuals with a CDC73-related disease. In summary, this is a sub-genic duplication with unknown impact on protein function. It has been classified as a Variant of Uncertain Significance.

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