ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.459dup (p.Ile154fs) (rs1555619430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000584664 SCV000692312 pathogenic Glucocorticoid Deficiency 2015-03-06 no assertion criteria provided clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000512930 SCV000608359 pathogenic ACTH resistance 2017-06-27 criteria provided, single submitter clinical testing

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