ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31352247)_(31352424_?)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 RCV001033210 SCV001196517 pathogenic Neurofibromatosis, type 1 2023-10-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 50 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). A similar copy number variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 26189818). For these reasons, this variant has been classified as Pathogenic.

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