Submissions for variant NM_005629.4(SLC6A8):c.1496-8C>T

gnomAD frequency: 0.00038  dbSNP: rs376038235

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224678	SCV000281216	benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV001079413	SCV000561172	benign	Creatine transporter deficiency	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000614840	SCV000728753	benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002390592	SCV002702015	benign	Inborn genetic diseases	2018-09-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV001079413	SCV002806472	likely benign	Creatine transporter deficiency	2021-08-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828095	SCV002084571	benign	Creatine deficiency syndrome 1	2019-12-24	no assertion criteria provided	clinical testing