ClinVar Miner

Variants studied for Congenital muscular hypertrophy-cerebral syndrome

Coded as:
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
45 36 144 16 25 252

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMC1A 45 36 140 16 25 248
IQSEC2, SMC1A 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 7 66 13 12 114
Illumina Clinical Services Laboratory,Illumina 2 0 64 2 17 85
Genetic Services Laboratory,University of Chicago 9 12 6 0 0 27
Baylor Genetics 9 5 4 0 0 18
OMIM 6 0 0 0 0 6
Mendelics 3 3 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.