ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.459dup (p.Ile154fs)

dbSNP: rs1555619430
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Total submissions: 5
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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 RCV000512930 SCV000608359 pathogenic Glucocorticoid deficiency 1 2017-06-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000512930 SCV004231776 pathogenic Glucocorticoid deficiency 1 2023-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000512930 SCV005088767 pathogenic Glucocorticoid deficiency 1 2022-03-10 criteria provided, single submitter clinical testing This variant (also known as c.459_460insC; p.I154fsX248 in the literature) has been reported in patients with familial glucocorticoid deficiency in homozygous state [PMID: 21778684, 19170705].
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584664 SCV000692312 pathogenic Glucocorticoid Deficiency 2015-03-06 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000512930 SCV001469201 pathogenic Glucocorticoid deficiency 1 2020-09-10 no assertion criteria provided clinical testing

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