ClinVar Miner

Variants studied for aromatic L-amino acid decarboxylase deficiency

Included ClinVar conditions (1):
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
49 37 208 210 22 493

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
DDC 49 37 208 210 22 493

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 41 18 175 205 16 455
Illumina Laboratory Services, Illumina 0 0 40 3 12 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 0 0 0 9
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 3 1 2 0 0 6
Mendelics 2 3 0 1 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 4
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 4 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 3
Baylor Genetics 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
DASA 1 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 1

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