ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala)

gnomAD frequency: 0.00001  dbSNP: rs771546256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714785 SCV000845515 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714786 SCV000845516 uncertain significance Pseudohypoaldosteronism type 2C 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002067010 SCV002394840 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-11-20 criteria provided, single submitter clinical testing

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