ClinVar Miner

Variants studied for Microcephaly 18, primary, autosomal dominant

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
3 9 37 4 2 1 56

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
WDFY3 3 9 36 3 1 1 53
LOC126807101, WDFY3 0 0 1 1 1 0 3

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 0 1 10 1 0 0 12
New York Genome Center 0 0 10 0 0 0 10
Baylor Genetics 0 2 6 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
OMIM 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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