ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5121A>G (p.Thr1707=)

gnomAD frequency: 0.00006  dbSNP: rs199923381
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503717 SCV001708575 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001503717 SCV002799380 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-04-04 criteria provided, single submitter clinical testing

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