ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) (rs794726669)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012882 SCV000033123 pathogenic Apparent mineralocorticoid excess, mild 2001-03-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761442 SCV000891524 uncertain significance Apparent mineralocorticoid excess 2017-12-30 no assertion criteria provided curation

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