ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4368-?_5943+?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 RCV000210504 SCV000266787 pathogenic Neurofibromatosis, type 1 2015-09-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NF1 gene has been identified. This deletion extends beyond both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. While this assay does not include deletion/duplication analysis for exons 16-24 and 31-35, all intervening and surrounding exons are deleted consistent with a whole gene deletion. Gross deletions of the NF1 gene have been observed in many neurofibromatosis patients and are known to be pathogenic (PMID: 8116612, 8931693, 9643287). For these reasons, this variant has been classified as Pathogenic.

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