ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.618G>A (p.Glu206=)

gnomAD frequency: 0.00004  dbSNP: rs146461512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878749 SCV001021705 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000878749 SCV005630325 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-02-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236383 SCV005886419 likely benign not specified 2025-02-17 criteria provided, single submitter clinical testing

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