ClinVar Miner

Variants studied for Coffin-Siris syndrome 12

Included ClinVar conditions (1):
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 total
18 15 37 1 0 71

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BICRA 18 11 37 1 67
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541 0 1 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, DHX34, EHD2, INAFM1, KPTN, LOC112552166, LOC116286190, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064801, LOC130064802, LOC130064803, LOC130064804, LOC130064805, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, TPRX1, ZNF541 0 1 0 0 1
BICRA, EHD2 0 1 0 0 1
BICRA, LOC121627883 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 0 0 9 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 3 1 0 5
OMIM 5 0 0 0 5
Baylor Genetics 1 1 2 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 1 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 4
3billion 1 2 0 0 3
New York Genome Center 0 0 3 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 2
MGZ Medical Genetics Center 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1
Mendelics 1 0 0 0 1
North East and Yorkshire NHS Genomic Laboratory Hub 0 1 0 0 1
Variantyx, Inc. 1 0 0 0 1

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