ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) (rs121917780)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012874 SCV000033115 pathogenic Apparent mineralocorticoid excess 1995-08-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000012874 SCV000891526 uncertain significance Apparent mineralocorticoid excess 2017-12-30 no assertion criteria provided curation
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000012874 SCV001133194 likely pathogenic Apparent mineralocorticoid excess 2019-09-26 no assertion criteria provided clinical testing

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