ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.459C>G (p.Pro153=)

gnomAD frequency: 0.00001  dbSNP: rs1446171264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994761 SCV001148504 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067606 SCV002378805 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-12-29 criteria provided, single submitter clinical testing

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