ClinVar Miner

Variants studied for disorder of catecholamine synthesis

Included ClinVar conditions (2):
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 not provided total
59 38 424 364 66 11 898

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DDC 49 37 208 210 22 0 493
DBH 10 1 216 154 44 11 405

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 49 18 325 350 51 0 793
Illumina Laboratory Services, Illumina 1 0 129 14 40 0 184
GeneReviews 0 0 0 0 1 11 12
OMIM 11 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 10
Revvity Omics, Revvity 4 2 3 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Mendelics 2 3 0 1 0 0 6
Baylor Genetics 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 4
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 4 0 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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