ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5583+36C>T

gnomAD frequency: 0.24814  dbSNP: rs2301880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833444 SCV000975207 benign not provided 2018-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519260 SCV001728096 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544062 SCV001763033 benign Neuropathy, hereditary sensory and autonomic, type 2A 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833444 SCV005234140 benign not provided criteria provided, single submitter not provided

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