Submissions for variant NM_018979.4(WNK1):c.258T>C (p.Cys86=)

gnomAD frequency: 0.97485  dbSNP: rs3168640

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246196	SCV000313291	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000246196	SCV000341555	benign	not specified	2016-05-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304597	SCV000381225	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.
Athena Diagnostics Inc	RCV000576412	SCV000677576	benign	Neuropathy, hereditary sensory and autonomic, type 2A	2017-06-12	criteria provided, single submitter	clinical testing
Invitae	RCV001510137	SCV001717094	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576412	SCV001763186	benign	Neuropathy, hereditary sensory and autonomic, type 2A	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001651231	SCV001863341	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246196	SCV001743334	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246196	SCV001920462	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246196	SCV001959718	benign	not specified		no assertion criteria provided	clinical testing