ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.441C>A (p.Cys147Ter)

dbSNP: rs1597636022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf RCV000856563 SCV000914193 risk factor Neurofibromatosis, type 1 no assertion criteria provided clinical testing NM_000267.3:c.441C>A is a nonsense mutation in exon 4 of the NF1 gene.

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