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
15 13 14 3 2 43

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 15 13 14 3 2 43

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 1 1 7 3 2 14
OMIM 8 0 0 0 0 8
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
Pfaffle Lab, University Hospital for Children and Adolescents,University of Leipzig 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 2
Counsyl 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1

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