ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)

dbSNP: rs1208417750
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Total submissions: 1
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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 RCV000581688 SCV000692310 pathogenic Glucocorticoid Deficiency 2009-01-23 no assertion criteria provided clinical testing

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