ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr)

gnomAD frequency: 0.01649  dbSNP: rs34728563
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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 RCV000353865 SCV000381813 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000557583 SCV000649396 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 RCV001725160 SCV001473965 benign not provided 2020-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288151 SCV001475078 benign not specified 2020-03-24 criteria provided, single submitter clinical testing
GeneDx RCV001725160 SCV001960519 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000557583 SCV002796136 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-11-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725160 SCV005234108 benign not provided criteria provided, single submitter not provided

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