ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.6643+13C>T

gnomAD frequency: 0.00002  dbSNP: rs765477070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002100689 SCV002389054 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002100689 SCV002796834 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-10-28 criteria provided, single submitter clinical testing

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