ClinVar Miner

Variants studied for Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies

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 total
7 6 23 1 2 39

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 total
ZMIZ1 7 6 21 1 2 37
LOC126860975, ZMIZ1 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 0 0 6 0 0 6
New York Genome Center 0 0 6 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Breda Genetics srl 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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