ClinVar Miner

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

gnomAD frequency: 0.00870  dbSNP: rs17755373
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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 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 Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-31 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 RCV000714200 SCV001157000 benign not provided 2023-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714200 SCV003916800 benign not provided 2023-10-01 criteria provided, single submitter clinical testing WNK1: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000714200 SCV001921454 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701846 SCV001927697 benign not specified no assertion criteria provided clinical testing

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