ClinVar Miner

Submissions for variant NC_000017.10:g.(?_29654575)_(29667842_?)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 RCV003109292 SCV003792000 pathogenic Neurofibromatosis, type 1 2022-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Phe1863Leu) have been determined to be pathogenic (PMID: 27838393; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant results in the deletion of part of exon 37 and exons 38-46 of the NF1 gene.

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