ClinVar Miner

Variants studied for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

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
20 32 36 9 7 95

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
ASNS, CZ1P-ASNS 20 32 36 9 7 95

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 1 4 16 8 3 32
Revvity Omics, Revvity Omics 2 5 4 1 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 7 0 0 0 11
OMIM 8 0 0 0 0 8
Broad Institute Rare Disease Group, Broad Institute 0 4 4 0 0 8
Genome-Nilou Lab 0 0 1 1 5 7
Fulgent Genetics, Fulgent Genetics 0 4 2 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 0 0 4
3billion 0 1 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Mendelics 0 2 0 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 1 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Pfaffle Lab, University Hospital for Children and Adolescents, University of Leipzig 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Counsyl 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1

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