Submissions for variant NM_001126108.2(SLC12A3):c.2924+13C>T

gnomAD frequency: 0.34518  dbSNP: rs2289115

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247470	SCV000303711	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301567	SCV000398146	benign	Familial hypokalemia-hypomagnesemia	2018-03-06	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247470	SCV000711838	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	c.2951+13C>T in intron 25 of SLC12A3: This variant is not expected to have clini cal significance because it is not located within the splice consensus sequence and has been identified in 58.70% (776/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2289115).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000301567	SCV000743753	benign	Familial hypokalemia-hypomagnesemia	2014-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512977	SCV001720494	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000301567	SCV001761514	benign	Familial hypokalemia-hypomagnesemia	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001512977	SCV001868120	benign	not provided	2019-08-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 14578305)
Breakthrough Genomics, Breakthrough Genomics	RCV001512977	SCV005292649	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000301567	SCV000733508	benign	Familial hypokalemia-hypomagnesemia		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247470	SCV001956248	benign	not specified		no assertion criteria provided	clinical testing