ClinVar Miner

Variants in gene EXOSC9

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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
27 9 129 107 31 297

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 24 6 103 106 31 267
Inborn genetic diseases 0 0 45 0 0 45
Pontocerebellar hypoplasia, type 1D 5 3 2 0 0 8
EXOSC9-related disorder 0 0 1 3 2 6
Cerebral atrophy 0 1 0 0 0 1
Pontoneocerebellar hypoplasia 1 0 0 0 0 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 5 97 106 14 245
Ambry Genetics 0 0 45 0 0 45
GeneDx 2 1 9 0 19 31
Breakthrough Genomics, Breakthrough Genomics 0 0 2 0 18 20
PreventionGenetics, part of Exact Sciences 0 0 1 3 2 6
OMIM 5 0 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 2 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
3billion 1 0 0 0 0 1

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