ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.1320G>A (p.Trp440Ter)

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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 RCV004555334 SCV005044307 pathogenic Hypercalcemia, infantile, 1 2023-10-31 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4

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