ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5493A>T (p.Thr1831=)

gnomAD frequency: 0.00004  dbSNP: rs202024020
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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 RCV001510353 SCV001717369 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510353 SCV002803334 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-10-20 criteria provided, single submitter clinical testing

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