ClinVar Miner

Submissions for variant NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) (rs121909133)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000054563 SCV000841582 pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000008031 SCV000891757 uncertain significance Bartter syndrome type 3 2018-08-31 criteria provided, single submitter research
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054563 SCV000077253 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.
OMIM RCV000008031 SCV000028236 pathogenic Bartter syndrome type 3 1997-10-01 no assertion criteria provided literature only

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