ClinVar Miner

Variants in gene SMC1A

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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 not provided total
146 97 379 393 90 3 1013

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital muscular hypertrophy-cerebral syndrome 105 58 261 308 75 1 782
not provided 31 24 92 65 21 1 225
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2 9 27 25 2 0 65
Inborn genetic diseases 5 5 21 24 7 0 62
not specified 0 0 9 14 12 0 33
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 15 6 7 0 1 0 29
SMC1A-related disorder 3 0 8 6 1 0 18
De Lange syndrome 1 0 2 10 1 0 14
See cases 1 0 3 0 0 0 4
History of neurodevelopmental disorder 0 0 2 0 0 0 2
SMC1A-related cohesinopathy 2 0 0 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
Atypical Rett syndrome 1 0 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome; Wiedemann-Steiner syndrome 1 0 0 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 0 1
Cornelia de Lange syndrome 1; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 0 0 0 1 1
Epileptic encephalopathy 1 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape 0 0 1 0 0 0 1
Global developmental delay; Hirsutism; Hypertonia; Microcephaly; Progressive sensorineural hearing impairment; Abnormal heart valve morphology 1 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Microcephaly 0 1 0 0 0 0 1
Pectus excavatum; Cognitive impairment; Abnormal corpus callosum morphology; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 0 0 1 0 0 0 1
Seizure 1 0 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 72 18 172 308 62 0 632
GeneDx 25 15 62 32 18 0 152
Illumina Laboratory Services, Illumina 4 0 66 12 18 0 100
Ambry Genetics 5 5 23 24 7 0 64
Fulgent Genetics, Fulgent Genetics 0 4 27 25 2 0 58
CeGaT Center for Human Genetics Tuebingen 4 3 19 27 0 0 53
Genetic Services Laboratory, University of Chicago 9 12 11 7 5 0 44
PreventionGenetics, part of Exact Sciences 2 0 7 8 5 0 22
Baylor Genetics 9 6 5 0 0 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 9 0 18
Eurofins Ntd Llc (ga) 0 4 4 1 8 0 17
OMIM 15 0 0 0 0 0 15
3billion 6 2 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 3 0 0 7
Mendelics 3 4 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 1 0 0 7
Athena Diagnostics 0 0 1 1 4 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 1 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 3 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 0 4
Revvity Omics, Revvity 1 0 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 1 3 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 1 0 0 0 3
ISCA site 1 0 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 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
Department of Medical Genetics, National Institute of Health 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 0 2
Breda Genetics srl 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 1 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Yang Lab, Women and Children's Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1

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