ClinVar Miner

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

gnomAD frequency: 0.00023  dbSNP: rs376385129
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Total submissions: 8
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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)
Invitae RCV001081364 SCV000561182 benign Creatine transporter deficiency 2024-01-31 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: 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.
PreventionGenetics, part of Exact Sciences RCV003955171 SCV004774766 likely benign SLC6A8-related condition 2023-10-24 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 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

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