ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31327499)_(31327839_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463947 SCV000563796 pathogenic Neurofibromatosis, type 1 2016-05-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 37 of the NF1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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