ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.7092del (p.Ser2365fs)

gnomAD frequency: 0.00001  dbSNP: rs1565626117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485846 SCV002777883 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-04-22 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723224 SCV000854355 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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