Submissions for variant NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)

gnomAD frequency: 0.00173  dbSNP: rs72649848

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000488140	SCV000574915	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	WNK1: BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085123	SCV001014336	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-02-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333783	SCV001526463	uncertain significance	Neuropathy, hereditary sensory and autonomic, type 2A	2018-11-19	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002446950	SCV002734528	likely benign	Inborn genetic diseases	2021-11-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000488140	SCV004564792	likely benign	not provided	2023-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902736	SCV004718942	likely benign	WNK1-related disorder	2023-06-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).