ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5463G>A (p.Ala1821=)

gnomAD frequency: 0.00004  dbSNP: rs770977819
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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 RCV002036974 SCV002318191 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002036974 SCV005631755 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-06-12 criteria provided, single submitter clinical testing

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