ClinVar Miner

Variants in gene combination PREPL, SLC3A1

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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
42 16 107 50 12 206

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cystinuria 24 13 65 15 3 106
Myasthenic syndrome, congenital, 22 9 1 30 26 4 70
not provided 7 2 9 8 8 34
Inborn genetic diseases 0 0 12 0 0 12
not specified 0 0 6 1 0 7
SLC3A1-related disorder 1 1 1 2 0 5
Cystine urolithiasis 2 0 0 0 0 2
Cystinuria; Myasthenic syndrome, congenital, 22 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 1
PREPL-related disorder 0 0 0 1 0 1
Premature ovarian insufficiency 1 0 0 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 24 3 49 44 5 124
Fulgent Genetics, Fulgent Genetics 3 6 34 1 0 44
Illumina Laboratory Services, Illumina 0 0 16 0 2 18
GeneDx 1 0 3 0 8 12
Ambry Genetics 0 0 12 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 2 1 6 9
Bionano Laboratories 7 0 0 0 0 7
PreventionGenetics, part of Exact Sciences 1 1 1 3 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 5
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 4 1 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 1 1 1 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 2 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Department of Urology, Hunan Children's Hospital 0 1 0 0 0 1
Biotechnology Lab, University of Central Punjab 1 0 0 0 0 1

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