ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1074C>T (p.Thr358=) (rs72648621)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000378664 SCV000344151 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373073 SCV000381736 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278467 SCV000381737 likely benign Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538089 SCV000649394 likely benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2017-12-21 criteria provided, single submitter clinical testing

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