Submissions for variant NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser)

gnomAD frequency: 0.00070  dbSNP: rs190384194

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000396383	SCV000402954	benign	Pseudohypoaldosteronism type 2B	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	RCV000054786	SCV001047083	likely benign	not provided	2023-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905017	SCV004718132	benign	WNK4-related disorder	2022-03-02	criteria provided, single submitter	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).
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center	RCV000054786	SCV000077476	unknown	not provided		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.