ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5397A>G (p.Gln1799=) (rs148639270)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000405779 SCV000381994 benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302716 SCV000381995 benign Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555746 SCV000649447 benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2017-07-21 criteria provided, single submitter clinical testing

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