ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.93C>A (p.Ala31=)

dbSNP: rs1601516078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309108 SCV001498592 likely benign Neurofibromatosis, type 2 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375390 SCV002686419 likely benign Hereditary cancer-predisposing syndrome 2019-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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