ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu)

gnomAD frequency: 0.00263  dbSNP: rs562247853
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510273 SCV001717273 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001544871 SCV001764089 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449341 SCV002734019 likely benign Inborn genetic diseases 2019-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690110 SCV005185326 likely benign not specified 2024-05-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001544871 SCV005213531 likely benign not provided criteria provided, single submitter not provided

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