ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2187G>A (p.Gly729=)

dbSNP: rs759764709
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Total submissions: 2
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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 RCV000714605 SCV000845315 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005223139 SCV005867304 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-06-04 criteria provided, single submitter clinical testing

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