ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1479T>C (p.Asp493=)

gnomAD frequency: 0.12413  dbSNP: rs2286006
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126337 SCV000169840 benign not specified 2014-03-07 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.
Preventiongenetics, part of Exact Sciences RCV000126337 SCV000313287 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312056 SCV000381809 benign Pseudohypoaldosteronism type 2C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000576606 SCV000677574 benign Neuropathy, hereditary sensory and autonomic, type 2A 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001517508 SCV001726019 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576606 SCV001763200 benign Neuropathy, hereditary sensory and autonomic, type 2A 2021-07-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000126337 SCV001917880 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000126337 SCV001951407 benign not specified no assertion criteria provided clinical testing

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