ClinVar Miner

Submissions for variant NC_000008.10:g.(?_90945564)_(90971082_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471493 SCV000564071 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2016-09-29 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 9-16 of the NBN gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with an NBN-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NBN protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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