ClinVar Miner

Variants studied for Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Coded as:
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 not provided total
18 79 77 5 5 1 176

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
KDM6B 10 56 66 4 5 0 135
KDM6B, LOC121587574 8 23 10 0 0 1 39
CAMTA1 0 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 61 10 0 0 0 71
Revvity Omics, Revvity 0 1 26 2 0 0 29
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 1 0 11
New York Genome Center 1 0 10 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 0 7
OMIM 6 0 0 0 0 0 6
Baylor Genetics 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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