ClinVar Miner

Variants in gene OPLAH

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Minimum submission review status: Collection method:
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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
22 22 249 183 54 507

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
5-Oxoprolinase deficiency 21 18 143 167 54 387
not specified 0 0 140 4 0 144
not provided 1 1 9 11 27 48
OPLAH-related disorder 0 4 2 17 10 33
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Familial sleep-related hypermotor epilepsy 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 2 133 158 54 363
Ambry Genetics 0 0 139 4 0 143
Fulgent Genetics, Fulgent Genetics 2 7 25 24 3 61
PreventionGenetics, part of Exact Sciences 0 4 2 17 10 33
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 27 33
CeGaT Center for Human Genetics Tuebingen 0 0 3 7 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 6 0 1 10
GeneDx 1 0 4 0 1 6
Revvity Omics, Revvity 0 4 1 0 0 5
OMIM 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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