ClinVar Miner

Submissions for variant NC_000001.10:g.(?_193104511)_(193104729_?)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 RCV001982995 SCV002246715 pathogenic Parathyroid carcinoma 2022-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the CDC73 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154).

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