Submissions for variant NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)

gnomAD frequency: 0.00023  dbSNP: rs376385129

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192485	SCV000248925	likely benign	not specified	2016-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000659183	SCV000527048	likely benign	not provided	2020-08-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18461508)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081364	SCV000561182	benign	Creatine transporter deficiency	2025-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659183	SCV000780999	likely benign	not provided	2018-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408858	SCV002722498	likely benign	Inborn genetic diseases	2017-06-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000659183	SCV001929579	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659183	SCV001975904	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955171	SCV004774766	likely benign	SLC6A8-related disorder	2023-10-24	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).