ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)

gnomAD frequency: 0.00001  dbSNP: rs104894660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851615 SCV002146499 pathogenic not provided 2021-09-02 criteria provided, single submitter clinical testing
OMIM RCV000003421 SCV000023579 pathogenic Glucocorticoid deficiency 1 2002-09-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584506 SCV000692309 pathogenic Glucocorticoid Deficiency 2008-04-16 no assertion criteria provided clinical testing

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