ClinVar Miner

Variants studied for gamma-amino butyric acid metabolism disorder

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 not provided total
119 92 641 541 111 5 1436

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABAT 22 26 314 292 70 1 693
ALDH5A1 72 61 232 179 37 3 547
ALDH5A1, GPLD1, LOC129995978 18 2 68 56 3 0 146
ALDH5A1, LOC129995978 5 2 17 14 1 0 37
ABAT, PMM2, TMEM186 1 0 6 0 0 1 8
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 0 1 0 0 0 1
ALDH5A1, DCDC2, GPLD1, KAAG1, MRS2 0 0 1 0 0 0 1
ALDH5A1, LOC129995983 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 18 473 509 51 0 1112
Illumina Laboratory Services, Illumina 2 0 174 31 81 0 288
Elsea Laboratory, Baylor College of Medicine 63 48 0 0 0 0 111
Baylor Genetics 1 13 4 0 0 0 18
Fulgent Genetics, Fulgent Genetics 4 1 8 4 0 0 17
OMIM 15 0 0 0 0 0 15
Laboratory of Metabolic Disorders, Peking University First Hospital 3 4 5 0 0 0 12
Revvity Omics, Revvity 4 1 6 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 0 9
3billion 3 0 1 2 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 5
Bonnen Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 1

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