ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7957del (p.Val2653fs)

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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 Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV004810718 SCV005431465 pathogenic Neurofibromatosis, type 1 2024-07-04 criteria provided, single submitter clinical testing The following ACMG criteria is used: PM2_Supporting (not reported in gnomAD); PVS1 (Null variant in gene with established LOF as disease mechanism, predicted NMD); PP4_mod (Patients phenotype is highly specific for a disease with a single genetic aetiology)

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