ClinVar Miner

Submissions for variant NC_000001.11:g.(?_193130174)_(193130243_?)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 RCV000469792 SCV000563780 pathogenic Parathyroid carcinoma 2016-04-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 3 of the CDC73 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in CDC73 are known to be pathogenic. A deletion of exon 3 has been reported in the literature in an individual affected with primary hyperparathyroidism (PMID: 2329331). For these reasons, this variant has been classified as Pathogenic.

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