ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2652G>A (p.Ala884=)

gnomAD frequency: 0.00006  dbSNP: rs142528714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302917 SCV000381849 uncertain significance Hereditary sensory and autonomic neuropathy type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359952 SCV000381850 uncertain significance Pseudohypoaldosteronism type 2A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647862 SCV000769665 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2019-05-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391116 SCV004129682 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing WNK1: BP4, BP7

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