ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.676-11del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002715165 SCV002994942 likely benign Neurofibromatosis, type 2 2024-01-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002715165 SCV004838936 likely benign Neurofibromatosis, type 2 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV004774717 SCV005384552 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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