Submissions for variant NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)

gnomAD frequency: 0.00146  dbSNP: rs118121751

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254490	SCV000303698	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320785	SCV000398115	likely benign	Familial hypokalemia-hypomagnesemia	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000971159	SCV001118782	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000320785	SCV002055373	benign	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000320785	SCV002797779	likely benign	Familial hypokalemia-hypomagnesemia	2021-08-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000320785	SCV001458559	likely benign	Familial hypokalemia-hypomagnesemia	2020-01-07	no assertion criteria provided	clinical testing