ClinVar Miner

Submissions for variant NM_001142.2(AMELX):c.167C>T (p.Pro56Leu)

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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 RCV004598528 SCV005091938 pathogenic Amelogenesis imperfecta type 1E 2024-04-16 criteria provided, single submitter clinical testing ACMG Criteria: PS4,PP1_STR,PP3_MOD,PS3_SUP,PM2_SUP

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