ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.131+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494052 SCV004242397 pathogenic Hyperparathyroidism 2 with jaw tumors 2023-12-27 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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