ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.702del (p.Phe235fs)

dbSNP: rs1555619372
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000513385 SCV000608357 pathogenic Glucocorticoid deficiency 1 2015-04-20 criteria provided, single submitter clinical testing

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