ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1743A>G (p.Lys581=)

gnomAD frequency: 0.00004  dbSNP: rs757328136
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001457838 SCV001661646 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2018-06-26 criteria provided, single submitter clinical testing

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