ClinVar Miner

Variants studied for Microcephaly 8, primary, autosomal recessive

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
8 11 8 3 0 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CEP135 8 11 8 3 28

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 0 0 4 0 4
Revvity Omics, Revvity 0 3 1 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 2 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 0 3 0 3
OMIM 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 2
3billion 1 1 0 0 2
Genetics, Fernandez Hospital, Fernandez Foundation 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 1
New York Genome Center 0 1 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 1

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