ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) (rs551933154)

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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 RCV000322116 SCV000472507 likely benign Corticosterone methyloxidase type 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365143 SCV000472508 likely benign Corticosterone methyloxidase type 1 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273132 SCV000472509 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000892319 SCV001036182 benign not provided 2019-02-23 criteria provided, single submitter clinical testing

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