ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.560del (p.Val187fs)

dbSNP: rs1555619406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702683 SCV001933729 pathogenic Glucocorticoid deficiency 1 2021-08-10 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583526 SCV000692314 pathogenic Glucocorticoid Deficiency 2015-12-10 no assertion criteria provided clinical testing

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