ClinVar Miner

Variants studied for Sjögren-Larsson syndrome

Coded as:
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 not provided total
46 83 75 17 19 2 215

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH3A2 45 82 74 17 19 2 212
ALDH3A2, LOC130060466 0 0 1 0 0 0 1
ALDH3A2, LOC130060467 1 0 0 0 0 0 1
KRT14 0 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 not provided total
Illumina Laboratory Services, Illumina 0 2 58 6 12 0 78
Counsyl 4 45 5 1 0 0 55
Natera, Inc. 13 0 8 9 4 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 6 0 0 0 0 26
Myriad Genetics, Inc. 1 17 0 0 0 0 18
OMIM 9 0 0 0 0 0 9
Baylor Genetics 4 1 2 0 0 0 7
Genome-Nilou Lab 0 0 0 1 6 0 7
Fulgent Genetics, Fulgent Genetics 2 1 2 1 0 0 6
Revvity Omics, Revvity 3 2 0 0 0 0 5
Rizzo Lab, University of Nebraska Medical Center 5 0 0 0 0 0 5
Mendelics 3 0 0 0 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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