ClinVar Miner

Variants studied for Classic dopamine transporter deficiency syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 4 16 3 8 35

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC6A3 7 4 16 3 8 35

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 6 7
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 0 1 5 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 3 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 4
Genome-Nilou Lab 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 1

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