ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31248964)_(31265359_?)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 RCV001031132 SCV001194438 pathogenic Neurofibromatosis, type 1 2019-05-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 30-35 of the NF1 gene. It preserves the integrity of the reading frame. This variant has been observed in an individual tested for neurofibromatosis type 1 (PMID: 26740943). Sub-genic deletion of exons 34-35 has been determined to be pathogenic (PMID: 16283621, 18055911, Invitae). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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