ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4578A>G (p.Ala1526=)

gnomAD frequency: 0.00007  dbSNP: rs541711074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002065453 SCV002324439 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975500 SCV004787620 likely benign WNK1-related condition 2019-04-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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