ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31155973)_(31265349_?)dup

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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 RCV001032382 SCV001195689 pathogenic Neurofibromatosis, type 1 2019-11-02 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 2-35 of the NF1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (Invitae). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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