ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)

gnomAD frequency: 0.00004  dbSNP: rs139218324
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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 RCV000582976 SCV000692311 pathogenic Glucocorticoid Deficiency 2013-02-08 no assertion criteria provided clinical testing

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