Submissions for variant NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)

dbSNP: rs544395150

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079151	SCV000649454	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000537996	SCV001148515	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	WNK1: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000537996	SCV001158289	likely benign	not provided	2020-04-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001079151	SCV002804286	likely benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2021-10-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700213	SCV001922768	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000537996	SCV001930581	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000537996	SCV001965208	likely benign	not provided		no assertion criteria provided	clinical testing