Submissions for variant NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=)

gnomAD frequency: 0.05592  dbSNP: rs2304479

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252641	SCV000303712	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282943	SCV000398100	benign	Familial hypokalemia-hypomagnesemia	2018-01-12	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.
Athena Diagnostics	RCV000282943	SCV000677498	benign	Familial hypokalemia-hypomagnesemia	2017-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521318	SCV001730639	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000282943	SCV001761463	benign	Familial hypokalemia-hypomagnesemia	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001521318	SCV001902365	benign	not provided	2019-08-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001521318	SCV005292603	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000282943	SCV001458484	benign	Familial hypokalemia-hypomagnesemia	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000252641	SCV001930601	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252641	SCV001953401	benign	not specified		no assertion criteria provided	clinical testing