ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5001C>T (p.Ser1667=)

gnomAD frequency: 0.00008  dbSNP: rs187067527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522316 SCV001731835 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001522316 SCV002796047 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940967 SCV004754455 likely benign WNK1-related disorder 2019-07-02 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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