ClinVar Miner

Variants studied for Sjögren-Larsson syndrome

Coded as:
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
42 62 74 16 19 2 191

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH3A2 42 61 74 16 19 2 190
KRT14 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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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 14 1 0 0 0 0 15
OMIM 9 0 0 0 0 0 9
Myriad Women's Health, Inc. 1 8 0 0 0 0 9
Genome-Nilou Lab 0 0 0 1 6 0 7
PerkinElmer Genomics 4 2 0 0 0 0 6
Baylor Genetics 2 0 3 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
Broad Institute Rare Disease Group, Broad Institute 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine 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, Oman 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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