Submissions for variant NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)

gnomAD frequency: 0.00157  dbSNP: rs151331381

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000321750	SCV000344150	uncertain significance	not provided	2016-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382313	SCV000375098	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	RCV001081595	SCV000649461	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000321750	SCV001472071	likely benign	not provided	2020-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000321750	SCV001747638	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	WNK1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000321750	SCV001923650	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000321750	SCV001928117	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000321750	SCV001965878	likely benign	not provided		no assertion criteria provided	clinical testing