ClinVar Miner

Variants in gene EXOSC2

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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 not provided total
1 4 126 107 13 1 244

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 1 112 106 12 0 230
not specified 0 0 26 0 1 0 27
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 1 3 3 0 0 1 7
EXOSC2-related disorder 0 0 0 2 1 0 3
Neurodevelopmental delay 0 0 1 0 0 0 1
Retinal dystrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 112 104 12 0 228
Ambry Genetics 0 0 25 0 0 0 25
CeGaT Center for Human Genetics Tuebingen 0 1 0 5 1 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 4 0 6
PreventionGenetics, part of Exact Sciences 0 0 0 2 1 0 3
Baylor Genetics 0 1 1 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
OMIM 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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