Submissions for variant NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=)

gnomAD frequency: 0.00597  dbSNP: rs146805986

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514019	SCV000610551	likely benign	not provided	2017-02-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000518560	SCV000615284	benign	not specified	2016-10-07	criteria provided, single submitter	clinical testing
Invitae	RCV000514019	SCV001032720	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115447	SCV001273424	benign	Familial hypokalemia-hypomagnesemia	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001115447	SCV002055374	benign	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001115447	SCV002089353	benign	Familial hypokalemia-hypomagnesemia	2019-12-06	no assertion criteria provided	clinical testing