Submissions for variant NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)

gnomAD frequency: 0.99751  dbSNP: rs1552311

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248948	SCV000303694	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576385	SCV000391496	benign	Bartter disease type 1	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.
Athena Diagnostics	RCV000248948	SCV000677490	benign	not specified	2021-06-04	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000248948	SCV000711753	likely benign	not specified	2016-02-02	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.2873T) is the minor allele. This a llele (T) has been identified in 0.62% (21/3400) of African chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs15523 11) and thus meets criteria to be classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512478	SCV001719905	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001512478	SCV001938121	benign	not provided	2019-11-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576385	SCV002055276	benign	Bartter disease type 1	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001512478	SCV005212646	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248948	SCV001739521	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248948	SCV001954145	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248948	SCV001978427	benign	not specified		no assertion criteria provided	clinical testing