ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.294C>T (p.Ala98=)

dbSNP: rs1555987671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017631 SCV001178740 likely benign Hereditary cancer-predisposing syndrome 2018-02-19 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.
Invitae RCV002549459 SCV003441438 likely benign Neurofibromatosis, type 2 2022-07-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002549459 SCV004826857 likely benign Neurofibromatosis, type 2 2023-04-28 criteria provided, single submitter clinical testing

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