ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31225075)_(31236281_?)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 RCV001032301 SCV001195608 pathogenic Neurofibromatosis, type 1 2019-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 17-29 of the NF1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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