ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) (rs17755373)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000297008 SCV000381998 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.
Invitae RCV000545674 SCV000649449 benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2019-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714200 SCV000844888 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000316 SCV001157000 benign not specified 2018-12-26 criteria provided, single submitter clinical testing

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