ClinVar Miner

Variants in gene SMC1A

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Minimum submission review status: Collection method:
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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 41 83 44 13 205

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital muscular hypertrophy-cerebral syndrome 31 27 38 3 9 100
Cornelia de Lange Syndrome 0 0 25 29 1 55
not provided 10 12 6 0 1 29
not specified 0 0 4 10 11 23
History of neurodevelopmental disorder 0 0 6 7 5 18
Inborn genetic diseases 4 3 2 0 0 9
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
Pectus excavatum; Cognitive impairment; Abnormality of the corpus callosum; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 0 0 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 6 28 3 9 55
Illumina Clinical Services Laboratory,Illumina 0 0 25 29 1 55
Genetic Services Laboratory, University of Chicago 9 12 10 6 5 42
Ambry Genetics 4 3 8 7 5 27
GeneDx 9 6 1 0 1 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 4 1 8 17
Baylor Genetics 8 4 2 0 0 14
OMIM 6 0 0 0 0 6
PreventionGenetics 0 0 0 2 4 6
Athena Diagnostics Inc 0 0 0 1 2 3
ISCA site 1 0 0 3 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 3
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 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 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 1

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