ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3906T>C (p.Ser1302=)

gnomAD frequency: 0.00002  dbSNP: rs1318518629
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193951 SCV002489388 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395416 SCV004129684 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing WNK1: BP4, BP7

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