ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) (rs142179598)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000341935 SCV000472459 likely benign Corticosterone methyloxidase type 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396944 SCV000472460 likely benign Corticosterone methyloxidase type 1 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302342 SCV000472461 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000947143 SCV001093314 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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