ClinVar Miner

Submissions for variant NC_000017.10:g.(?_29654497)_(29670173_?)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 RCV004579927 SCV005065202 pathogenic Neurofibromatosis, type 1 2023-02-13 criteria provided, single submitter clinical testing 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. This variant is a gross deletion of the genomic region encompassing exon(s) 37-47 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).

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