ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2840C>A (p.Pro947Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443577 SCV004168732 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing; Reported using an alternate transcript of the gene
Fulgent Genetics, Fulgent Genetics RCV005003066 SCV005631656 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-02 criteria provided, single submitter clinical testing

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