ClinVar Miner

Variants in gene SMC1A

See also:
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
77 55 177 86 32 395

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital muscular hypertrophy-cerebral syndrome 55 39 149 43 25 297
not provided 11 14 12 25 5 66
not specified 0 0 5 10 12 25
History of neurodevelopmental disorder 0 0 6 7 5 18
De Lange syndrome 0 0 2 10 1 13
Inborn genetic diseases 4 4 3 0 0 11
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 9 1 0 0 0 10
See cases 0 0 3 0 0 3
Congenital muscular hypertrophy-cerebral syndrome; Wiedemann-Steiner syndrome 1 0 0 0 0 1
Global developmental delay; Abnormal facial shape 0 0 1 0 0 1
Global developmental delay; Hirsutism; Hypertonia; Microcephaly; Progressive sensorineural hearing impairment; Abnormality of the heart valves 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 1
Microcephaly 0 1 0 0 0 1
Pectus excavatum; Cognitive impairment; Abnormality of the corpus callosum; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 0 0 1 0 0 1
SMC1A-related cohesinopathy 1 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
none provided 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 10 71 55 16 179
Illumina Clinical Services Laboratory,Illumina 3 0 66 12 18 99
Genetic Services Laboratory, University of Chicago 9 12 10 6 5 42
Ambry Genetics 4 4 9 7 5 29
Baylor Genetics 9 5 4 0 0 18
GeneDx 10 6 1 0 1 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 4 1 8 17
OMIM 15 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 6 6 0 15
Athena Diagnostics Inc 0 0 1 1 4 6
PreventionGenetics, PreventionGenetics 0 0 0 2 4 6
Mendelics 3 3 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 3 0 0 6
ISCA site 1 0 0 3 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Breda Genetics srl 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 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
Gharavi Laboratory,Columbia University 0 1 0 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
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 1 0 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.