ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3490-5T>A

gnomAD frequency: 0.01759  dbSNP: rs72650719
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392791 SCV000381948 benign Pseudohypoaldosteronism type 2C 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000527394 SCV000649419 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2025-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001725161 SCV001473967 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001725161 SCV001960518 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000527394 SCV002798340 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-07-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725161 SCV005234125 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003977914 SCV004790926 benign WNK1-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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