ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.522C>T (p.Ser174=)

gnomAD frequency: 0.00004  dbSNP: rs536592144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002116954 SCV002397425 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002116954 SCV002800975 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-11-12 criteria provided, single submitter clinical testing

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