ClinVar Miner

Submissions for variant NM_016418.5(NF2):c.517-92_568del (rs1601613230)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810194 SCV000950387 pathogenic Neurofibromatosis, type 2 2018-11-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 6 (c.517-92_568del) of the NF2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed to be de novo in an individual with clinical features of neurofibromatosis, type 2 (Invitae). 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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