ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.777+4C>T

gnomAD frequency: 0.00063  dbSNP: rs201581661
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424312 SCV000518799 benign not specified 2016-05-31 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.
Invitae RCV000474891 SCV000561171 benign Creatine transporter deficiency 2024-01-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000424312 SCV000703126 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311463 SCV000846550 likely benign Inborn genetic diseases 2016-05-06 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.
CeGaT Center for Human Genetics Tuebingen RCV001727719 SCV002546207 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SLC6A8: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003932586 SCV004751136 likely benign SLC6A8-related condition 2019-04-01 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000424312 SCV001928029 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727719 SCV001975492 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.