ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)

gnomAD frequency: 0.00001  dbSNP: rs557930357
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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 RCV001071156 SCV001236444 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001071156 SCV002815262 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-09-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693585 SCV005191596 uncertain significance not provided criteria provided, single submitter not provided

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