ClinVar Miner

Submissions for variant NC_000001.11:g.(?_193122201)_(193250712_?)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 RCV001031118 SCV001194424 pathogenic Parathyroid carcinoma 2022-08-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CDC73 gene has been identified. Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with hyperparathyroidism (PMID: 25444225, 29040582). For these reasons, this variant has been classified as Pathogenic.

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