ClinVar Miner

Submissions for variant NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) (rs121912571)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000009100 SCV000598129 likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 2017-03-27 criteria provided, single submitter clinical testing
OMIM RCV000009100 SCV000029317 pathogenic Autosomal dominant pseudohypoaldosteronism type 1 2006-11-01 no assertion criteria provided literature only

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