ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.114+20G>T

gnomAD frequency: 0.00016  dbSNP: rs746868503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434844 SCV000535139 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063615 SCV002368093 benign Neurofibromatosis, type 2 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481338 SCV002801251 likely benign Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 2022-05-24 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000434844 SCV004024674 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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