ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.762C>A (p.Ile254=)

gnomAD frequency: 0.00001  dbSNP: rs765985886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002086423 SCV002420886 likely benign Neurofibromatosis, type 2 2023-10-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002086423 SCV004825177 likely benign Neurofibromatosis, type 2 2023-08-15 criteria provided, single submitter clinical testing

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