ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)

dbSNP: rs1555619429
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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 RCV000582275 SCV000692313 likely pathogenic Glucocorticoid Deficiency 2017-02-28 no assertion criteria provided clinical testing

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