ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.598G>A (p.Gly200Ser) (rs886039788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001254595 SCV001430582 likely pathogenic Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV000256216 SCV000322760 pathogenic GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY 2016-10-11 no assertion criteria provided literature only

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