ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2664A>G (p.Val888=)

gnomAD frequency: 0.00012  dbSNP: rs769020140
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506911 SCV000605617 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV002496973 SCV000769675 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496973 SCV002799246 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979912 SCV004793918 likely benign WNK1-related disorder 2019-04-15 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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