ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) (rs375242946)

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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 RCV000374419 SCV000472531 likely benign Corticosterone methyloxidase type 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263147 SCV000472532 likely benign Corticosterone methyloxidase type 1 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315985 SCV000472533 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000897922 SCV001042098 likely benign not provided 2019-02-02 criteria provided, single submitter clinical testing

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