ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2415G>A (p.Pro805=)

gnomAD frequency: 0.00007  dbSNP: rs774824248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615191 SCV000718873 likely benign not specified 2017-04-26 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.
Invitae RCV001466655 SCV001670660 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-09-27 criteria provided, single submitter clinical testing

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