ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.939C>T (p.Ala313=)

gnomAD frequency: 0.00003  dbSNP: rs747526252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886466 SCV001029973 likely benign Neurofibromatosis, type 2 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019252 SCV001180584 likely benign Hereditary cancer-predisposing syndrome 2019-02-26 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.
Sema4, Sema4 RCV001019252 SCV002528207 likely benign Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000886466 SCV004816424 likely benign Neurofibromatosis, type 2 2023-08-15 criteria provided, single submitter clinical testing

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