ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.3267G>A (p.Leu1089=)

gnomAD frequency: 0.00004  dbSNP: rs374001403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409331 SCV001611348 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001409331 SCV002810811 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-08 criteria provided, single submitter clinical testing

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