ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7120del (p.Met2374fs)

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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 Neurology, Zibo Changguo Hospital RCV005244153 SCV005889650 pathogenic Neurofibromatosis, type 1 2025-01-08 criteria provided, single submitter clinical testing PVS1, PM6, PM2_Supporting, PP4

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