ClinVar Miner

Variants studied for intellectual developmental disorder, autosomal dominant 63, with macrocephaly

Included ClinVar conditions (2):
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
8 14 33 5 14 73

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 total
TRIO 7 14 30 5 13 68
LOC126807323, TRIO 0 0 3 0 1 4
ANKH, ANKRD33B, ATPSCKMT, BASP1, CCT5, CMBL, CTNND2, DAP, DNAH5, FBXL7, LINC01194, MARCHF11, MARCHF6, MYO10, OTULIN, OTULIN-DT, OTULINL, RETREG1, ROPN1L, TRIO, ZNF622 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
Genome-Nilou Lab 0 0 0 0 13 13
Fulgent Genetics, Fulgent Genetics 0 1 6 4 0 11
New York Genome Center 0 0 9 0 0 9
SIB Swiss Institute of Bioinformatics 5 1 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 0 0 0 5
OMIM 4 0 0 0 0 4
Baylor Genetics 1 1 2 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 3 0 0 4
3billion, Medical Genetics 2 0 1 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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