Submissions for variant NM_005629.4(SLC6A8):c.813C>T (p.Val271=)

gnomAD frequency: 0.00248  dbSNP: rs138064933

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000468467	SCV000516423	likely benign	not provided	2021-09-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16738945)
Invitae	RCV001082723	SCV000561173	benign	Creatine transporter deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000418972	SCV000597115	benign	not specified	2019-09-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314165	SCV000849249	likely benign	Inborn genetic diseases	2016-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc	RCV000468467	SCV001145707	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001082723	SCV002806718	likely benign	Creatine transporter deficiency	2021-12-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932580	SCV004747853	benign	SLC6A8-related condition	2019-10-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000468467	SCV001930032	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000468467	SCV001970410	likely benign	not provided		no assertion criteria provided	clinical testing