ClinVar Miner

Submissions for variant NM_001122764.3(PPOX):c.313dup (p.Leu105fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004764814 SCV005374645 likely pathogenic Variegate porphyria 2024-10-11 criteria provided, single submitter clinical testing ACMG: PVS1, PM2_Supporting

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