ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)

gnomAD frequency: 0.00003  dbSNP: rs529032048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338635 SCV000381847 likely benign Pseudohypoaldosteronism type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395044 SCV000381848 likely benign Hereditary sensory and autonomic neuropathy type 2 2016-06-14 criteria provided, single submitter clinical testing

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