Submissions for variant NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)

gnomAD frequency: 0.00175  dbSNP: rs147046379

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884094	SCV001027450	likely benign	not provided	2024-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000884094	SCV001804765	likely benign	not provided	2020-10-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31672324)
Fulgent Genetics, Fulgent Genetics	RCV001274425	SCV002811322	likely benign	Familial hypokalemia-hypomagnesemia	2021-10-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001274425	SCV003823305	uncertain significance	Familial hypokalemia-hypomagnesemia	2022-12-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274425	SCV001458561	likely benign	Familial hypokalemia-hypomagnesemia	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004746127	SCV005366617	likely benign	SLC12A3-related disorder	2024-09-25	no assertion criteria provided	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).