ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3489+17A>G

gnomAD frequency: 0.00213  dbSNP: rs185323017
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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 RCV002220063 SCV002379233 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002220063 SCV002800476 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-14 criteria provided, single submitter clinical testing

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