ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1044C>T (p.Arg348=)

gnomAD frequency: 0.00014  dbSNP: rs201400797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876418 SCV001018987 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000876418 SCV002803401 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396526 SCV004129675 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing WNK1: BP4, BP7

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