Variants studied for Classic dopamine transporter deficiency syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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	3	11	3	8	29

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	3	11	3	8	29

Submitter and significance breakdown #

Total submitters: 17

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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
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
Revvity Omics, Revvity	0	1	2	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	0	2	0	0	2
Duke University Health System Sequencing Clinic, Duke University Health System	1	0	1	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Invitae	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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