ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.490C>T (p.Arg164Cys)

gnomAD frequency: 0.00011  dbSNP: rs201939737
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 RCV000872018 SCV001013765 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872018 SCV002794956 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-08-20 criteria provided, single submitter clinical testing

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