ClinVar Miner

Variants studied for Coffin-Siris syndrome 8

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
14 24 48 1 2 1 86

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCC2 13 23 47 1 2 1 83
LOC130008058, SMARCC2 0 1 1 0 0 0 2
ANKRD52, APOF, CNPY2, COQ10A, CS, IL23A, LOC121832836, LOC124629373, LOC124629374, LOC129390463, LOC129390464, LOC130008058, LOC130008059, LOC130008060, LOC130008061, LOC130008062, LOC130008063, LOC130008064, LOC130008065, LOC130008066, LOC130008067, LOC130008068, LOC130008069, LOC130008070, LOC130008071, LOC130008072, LOC130008073, LOC130008074, LOC130008075, LOC130008076, LOC130008077, LOC130008078, LOC132090122, LOC132090123, LOC132090124, LOC132090125, LOC132090126, LOC132090127, LOC132090128, LOC132090848, LOC132090849, NABP2, PAN2, RNF41, SLC39A5, SMARCC2, STAT2, TRS-CGA4-1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 5 4 0 0 0 10
New York Genome Center 0 0 9 0 0 0 9
Revvity Omics, Revvity 0 1 8 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 5 0 0 0 6
3billion 0 1 4 0 0 0 5
OMIM 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 1 0 4
MVZ Martinsried, Medicover Genetics 2 0 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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