ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1488A>C (p.Pro496=)

gnomAD frequency: 0.00002  dbSNP: rs1310563343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297724 SCV001486754 likely benign Neurofibromatosis, type 2 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393702 SCV002698595 likely benign Hereditary cancer-predisposing syndrome 2021-07-16 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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