ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5583+16T>G

gnomAD frequency: 0.00024  dbSNP: rs369251741
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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 RCV002214879 SCV002366866 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002214879 SCV002808802 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-16 criteria provided, single submitter clinical testing

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