ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.318A>G (p.Glu106=)

gnomAD frequency: 0.00001  dbSNP: rs535626069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460492 SCV001664366 likely benign Neurofibromatosis, type 2 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322504 SCV002609384 likely benign Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001460492 SCV004818145 likely benign Neurofibromatosis, type 2 2023-03-23 criteria provided, single submitter clinical testing

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