ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4554dup (p.Gly1519fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764545 SCV005374058 likely pathogenic Neurofibromatosis, type 1 2024-09-22 criteria provided, single submitter clinical testing

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