ClinVar Miner

Variants in gene KANSL1

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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 total
27 7 133 244 193 544

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 3 199 26 228
not provided 13 4 22 5 142 186
Koolen-de Vries syndrome 15 3 74 38 25 152
Syndromic intellectual disability 0 0 38 26 17 81
Inborn genetic diseases 2 0 4 0 0 6
See cases 0 0 0 0 6 6
Premature ovarian failure 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 13 2 17 199 25 256
Invitae 4 0 66 38 25 133
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 129 130
Illumina Clinical Services Laboratory,Illumina 0 0 38 26 17 81
Athena Diagnostics Inc 0 0 1 1 13 15
OMIM 6 0 0 0 0 6
Ambry Genetics 2 0 4 0 0 6
GeneReviews 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 1 6
Baylor Miraca Genetics Laboratories, 0 2 2 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 0 0 4
ISCA site 8 0 0 0 0 4 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
ISCA site 7 0 0 0 0 2 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 1

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