ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.48G>T (p.Leu16=)

dbSNP: rs368453008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498872 SCV001703626 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001498872 SCV002807822 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-30 criteria provided, single submitter clinical testing

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