ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.260G>A (p.Arg87His)

gnomAD frequency: 0.00003  dbSNP: rs778618899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040122 SCV005681619 uncertain significance Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278648 SCV001465676 uncertain significance Corticosterone methyl oxidase type II deficiency 2020-08-20 no assertion criteria provided clinical testing

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