ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.759+27G>A

gnomAD frequency: 0.61933  dbSNP: rs3858703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829745 SCV000971477 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001544199 SCV001763188 benign Neuropathy, hereditary sensory and autonomic, type 2A 2021-07-14 criteria provided, single submitter clinical testing

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