ClinVar Miner

Submissions for variant NC_000022.10:g.(?_29083885)_(30337586_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390044 SCV001591619 pathogenic Neurofibromatosis, type 2 2020-03-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NF2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletion of NF2 has been observed in many individuals affected with neurofibromatosis type 2 (PMID: 9817927, 10220142, 15645494). ClinVar contains an entry for this variant (Variation ID: 237611). Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.

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