ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31325814)_(31338145_?)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 RCV000545727 SCV000628339 pathogenic Neurofibromatosis, type 1 2017-06-16 criteria provided, single submitter clinical testing Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. Deletion of exons 36-44 has not been reported in the literature in individuals with an NF1-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exons 36-44 of the NF1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product.

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