ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.763C>A (p.Arg255=)

gnomAD frequency: 0.00003  dbSNP: rs764593537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647874 SCV000769677 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937951 SCV004749157 likely benign WNK1-related condition 2019-06-06 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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