ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)

gnomAD frequency: 0.00012  dbSNP: rs371448826
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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 RCV001309742 SCV001499250 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001309742 SCV002805610 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-05-22 criteria provided, single submitter clinical testing

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