ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro)

gnomAD frequency: 0.84165  dbSNP: rs956868
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251124 SCV000313292 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368653 SCV000381939 benign Pseudohypoaldosteronism type 2C 2018-03-06 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 RCV000576816 SCV000677578 benign Neuropathy, hereditary sensory and autonomic, type 2A 2017-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001651232 SCV001156804 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001519259 SCV001728095 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576816 SCV001763469 benign Neuropathy, hereditary sensory and autonomic, type 2A 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001651232 SCV001870254 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17000706)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251124 SCV001743693 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000251124 SCV001917572 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251124 SCV001951532 benign not specified no assertion criteria provided clinical testing

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