ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.6123T>A (p.Leu2041=)

gnomAD frequency: 0.00024  dbSNP: rs189148252
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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 RCV000535008 SCV000649460 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000535008 SCV002810835 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-01-06 criteria provided, single submitter clinical testing

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