ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1447-11C>T

gnomAD frequency: 0.00002  dbSNP: rs571246532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136860 SCV002407821 benign Neurofibromatosis, type 2 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508027 SCV002808659 likely benign Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 2022-05-13 criteria provided, single submitter clinical testing

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