ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.109C>T (p.Gln37Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004546871 SCV005040859 pathogenic Hypercalcemia, infantile, 1 2021-11-11 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP, PM3, PP4

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