Submissions for variant NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)

gnomAD frequency: 0.00523  dbSNP: rs111578437

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000353248	SCV000398104	likely 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 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	RCV000881963	SCV001025171	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000881963	SCV001145682	benign	not provided	2018-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000881963	SCV001801866	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000353248	SCV002055370	benign	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000353248	SCV001458550	benign	Familial hypokalemia-hypomagnesemia	2019-11-11	no assertion criteria provided	clinical testing