ClinVar Miner

Submissions for variant NM_025243.3(SLC19A3):c.421G>A (p.Gly141Ser) (rs148144444)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000426605 SCV000843911 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426605 SCV000609026 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426605 SCV000510590 benign not provided 2017-01-04 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000528317 SCV000744178 benign Biotin-thiamine-responsive basal ganglia disease 2014-12-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000528317 SCV000734174 likely benign Biotin-thiamine-responsive basal ganglia disease no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177348 SCV000229196 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000177348 SCV000171650 benign not specified 2013-12-02 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.
Genetic Services Laboratory, University of Chicago RCV000177348 SCV000248898 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000528317 SCV000743152 likely benign Biotin-thiamine-responsive basal ganglia disease 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV000528317 SCV000639717 benign Biotin-thiamine-responsive basal ganglia disease 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000177348 SCV000314608 likely benign not specified criteria provided, single submitter clinical testing

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