ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.517-2A>G (rs1060503670)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458184 SCV000553675 pathogenic Neurofibromatosis, type 2 2016-07-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the NF2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in the literature in two individuals with bilateral vestibular schwannomas (PMID: 16983642). For these reasons, this variant has been classified as Pathogenic.

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