ClinVar Miner

Variants studied for Deficiency of aromatic-L-amino-acid decarboxylase

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
57 44 212 232 22 528

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 57 44 212 232 22 528

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 48 17 178 227 16 486
Illumina Laboratory Services, Illumina 0 0 37 3 12 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 5 0 0 0 15
Fulgent Genetics, Fulgent Genetics 3 10 0 1 0 14
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 3 1 2 0 0 6
Mendelics 2 3 0 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 1 5
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
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
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
3billion 0 1 0 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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