ClinVar Miner

Submissions for variant NC_000017.10:g.(?_29548858)_(29549489_?)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 RCV003109294 SCV003792002 pathogenic Neurofibromatosis, type 1 2021-11-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15 of the NF1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. 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 affected with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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