Submissions for variant NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser)

gnomAD frequency: 0.01422  dbSNP: rs61746763

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245158	SCV000303702	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368165	SCV000398124	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.
Invitae	RCV000947704	SCV001093890	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000368165	SCV002055376	benign	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000947704	SCV002107309	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000368165	SCV001462616	benign	Familial hypokalemia-hypomagnesemia	2020-09-16	no assertion criteria provided	clinical testing