ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.6096G>A (p.Ser2032=)

gnomAD frequency: 0.00001  dbSNP: rs768679171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000915405 SCV001060609 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2019-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000915405 SCV002796589 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-08-16 criteria provided, single submitter clinical testing

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