ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1269G>A (p.Ser423=)

dbSNP: rs955095527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647845 SCV000769648 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000647845 SCV002780641 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-03-18 criteria provided, single submitter clinical testing

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