ClinVar Miner

Variants in gene IPO8

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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
22 11 82 21 4 130

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 67 2 0 69
not provided 4 2 11 18 4 36
VISS syndrome 9 8 6 1 0 22
IPO8 related Connective tissue disorder 11 0 0 0 0 11
IPO8-related aortopathy 8 0 0 0 0 8
IPO8-related disorder 0 1 3 2 0 6
Duane-radial ray syndrome 1 0 0 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 67 2 0 69
CeGaT Center for Human Genetics Tuebingen 0 0 5 13 2 20
Biochemistry and Genetics Laboratory, University Hospital of Angers 11 0 0 0 0 11
Labcorp Genetics (formerly Invitae), Labcorp 2 1 0 5 2 10
SIB Swiss Institute of Bioinformatics 1 7 1 0 0 9
GeneDx 2 1 5 0 0 8
Centre of Medical Genetics, University of Antwerp 8 0 0 0 0 8
OMIM 7 0 0 0 0 7
PreventionGenetics, part of Exact Sciences 0 1 3 2 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
3billion 1 0 0 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1

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