ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)

gnomAD frequency: 0.00308  dbSNP: rs149682756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434753 SCV000530874 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000911079 SCV001056133 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833552 SCV002080829 benign Corticosterone methyl oxidase type II deficiency 2019-12-10 no assertion criteria provided clinical testing

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