ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1548G>T (p.Arg516=)

gnomAD frequency: 0.00001  dbSNP: rs534398531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475512 SCV000563480 likely benign Neurofibromatosis, type 2 2023-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402369 SCV002707416 likely benign Hereditary cancer-predisposing syndrome 2021-06-16 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 RCV000475512 SCV004817164 likely benign Neurofibromatosis, type 2 2023-02-24 criteria provided, single submitter clinical testing

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