ClinVar Miner

Submissions for variant NC_000022.11:g.29600322_29604002del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242688 SCV001415791 pathogenic Neurofibromatosis, type 2 2019-11-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 1 of the NF2 gene, which includes the initiator codon (c.-3677_3delinsC). This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NF2-related conditions. 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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