ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2139+7A>G

gnomAD frequency: 0.00005  dbSNP: rs757902795
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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 RCV001484020 SCV001688428 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001484020 SCV002810019 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-04-15 criteria provided, single submitter clinical testing

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