ClinVar Miner

Variants studied for SLC6A3-related dopamine transporter deficiency syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
10 6 129 199 33 366

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC6A3 8 6 129 199 33 364
AHRR, BRD9, CEP72, CLPTM1L, EXOC3, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 3 122 193 31 353
Fulgent Genetics, Fulgent Genetics 0 0 7 5 0 12
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
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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