Submissions for variant NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)

dbSNP: rs72650732

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000333723	SCV000381984	likely benign	Hereditary sensory and autonomic neuropathy type 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388274	SCV000381985	likely benign	Pseudohypoaldosteronism type 2A	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001079132	SCV000649439	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756937	SCV000884928	likely benign	not provided	2022-03-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756937	SCV001148511	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	WNK1: PM4:Supporting, BS2
Ambry Genetics	RCV002348047	SCV002647118	likely benign	Inborn genetic diseases	2020-11-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center	RCV000756937	SCV001917126	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756937	SCV001931954	likely benign	not provided		no assertion criteria provided	clinical testing