ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)

dbSNP: rs1553853557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ute Scholl Laboratory, Heinrich Heine University Duesseldorf RCV000515901 SCV000606837 pathogenic Familial hyperaldosteronism type II 2017-09-25 no assertion criteria provided research Four independent occurrences of CLCN2 p.Arg172Gln, significant burden of rare variants in CLCN2 in early-onset primary aldosteronism (two de novo), localization of CLCN2 in adrenal zona glomerulosa, electrophysiologic impact of mutant channels and effect on aldosterone synthase expression
OMIM RCV000515901 SCV000803372 pathogenic Familial hyperaldosteronism type II 2018-08-10 no assertion criteria provided literature only

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