ClinVar Miner

Submissions for variant NM_000085.4(CLCNKB):c.18dup (p.Leu7fs) (rs953686324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711252 SCV000841586 pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000761590 SCV000891750 pathogenic Bartter syndrome type 3 2018-08-31 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP4
Mendelics RCV000761590 SCV001135187 pathogenic Bartter syndrome type 3 2019-05-28 criteria provided, single submitter clinical testing

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