ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5086G>A (p.Ala1696Thr)

gnomAD frequency: 0.00005  dbSNP: rs760615496
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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 RCV001345582 SCV001539712 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-05-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001345582 SCV005631740 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-05-02 criteria provided, single submitter clinical testing

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