ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.6021A>G (p.Leu2007=)

gnomAD frequency: 0.00001  dbSNP: rs1466331283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227371 SCV002506277 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Invitae RCV003774678 SCV004576821 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-04-26 criteria provided, single submitter clinical testing

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