ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) (rs4544)

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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 RCV000372642 SCV000472471 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278472 SCV000472472 likely benign Corticosterone methyloxidase type 1 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342872 SCV000472473 likely benign Corticosterone methyloxidase type 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000892873 SCV001036777 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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