ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2652G>A (p.Ala884=) (rs142528714)

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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 RCV000302917 SCV000381849 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359952 SCV000381850 uncertain significance Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647862 SCV000769665 likely benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2017-09-15 criteria provided, single submitter clinical testing

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