ClinVar Miner

Variants studied for Coffin-Siris syndrome 12

Included ClinVar conditions (1):
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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
11 8 17 0 0 36

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BICRA 11 5 17 33
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 1
BICRA, EHD2 0 1 0 1
BICRA, LOC121627883 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Revvity Omics, Revvity 0 0 5 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 3 1 5
Baylor Genetics 1 1 2 4
New York Genome Center 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 3
MGZ Medical Genetics Center 0 0 2 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Mendelics 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
North East Yorkshire Genomic Laboratory Hub 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 1

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