Submissions for variant NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)

gnomAD frequency: 0.00213  dbSNP: rs146834675

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885798	SCV001029267	likely benign	not provided	2025-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001118512	SCV001276801	uncertain significance	Familial hypokalemia-hypomagnesemia	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000885798	SCV001987866	uncertain significance	not provided	2019-08-19	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV001118512	SCV002055287	uncertain significance	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000885798	SCV004139419	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLC12A3: BP4
Athena Diagnostics	RCV004997465	SCV005621920	likely benign	not specified	2023-11-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001118512	SCV001458552	uncertain significance	Familial hypokalemia-hypomagnesemia	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004746129	SCV005345403	likely benign	SLC12A3-related disorder	2024-05-31	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).