ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8090_8093del (p.Gln2697fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596021 SCV005090997 likely pathogenic Neurofibromatosis, type 1 2024-06-04 criteria provided, single submitter clinical testing PVS1, PM2 - The variant is expected to result in an absent or disrupted protein product. Not observed Not observed in large population cohorts (gnomAD).

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