ClinVar Miner

Variants studied for van Maldergem syndrome 1

Included ClinVar conditions (3):
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
7 3 26 10 6 1 52

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DCHS1 7 3 26 10 6 0 51
FAT4 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 7 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
3billion 0 0 0 5 0 0 5
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 1 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Precision Medicine Center, Jinhua Municipal Central Hospital 0 1 0 0 0 0 1

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