ClinVar Miner

Submissions for variant NC_000017.10:g.(?_29421945)_(29509683_?)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 RCV000462709 SCV000563799 uncertain significance Neurofibromatosis, type 1 2016-10-01 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-8 of the NF1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 8 of the NF1 gene. This particular duplication has not been reported previously in the literature. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NF1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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