ClinVar Miner

Variants studied for Congenital muscular hypertrophy-cerebral syndrome

Coded as:
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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 not provided total
99 57 245 272 75 1 723

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMC1A 98 57 240 269 75 1 714
IQSEC2, SMC1A 0 0 4 0 0 0 4
MIR6857, SMC1A 0 0 0 3 0 0 3
ALAS2, APEX2, FAM120C, FGD1, GNL3L, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MIR98, MIRLET7F2, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSR2, WNK3 1 0 0 0 0 0 1
HSD17B10, HUWE1, RIBC1, SMC1A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 18 158 268 62 0 571
Illumina Laboratory Services, Illumina 2 0 64 2 17 0 85
Genetic Services Laboratory, University of Chicago 9 12 6 0 0 0 27
Baylor Genetics 9 7 5 0 0 0 21
Mendelics 3 4 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
3billion 4 1 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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