ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.547_548dup (p.Asn184fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gemeinschaftspraxis fuer Humangenetik Dresden RCV003486472 SCV004232161 pathogenic Neurofibromatosis, type 1 2023-08-02 criteria provided, single submitter clinical testing This variant is not reported in HGMD 2023.2, gnomAD, dbSNP or LOVD (we submitted there) so far. Due to the protein truncating character the variant is classified as pathogenic.

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