ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
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
67 55 350 534 36 4 997

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLOD1 66 54 347 531 31 3 985
LOC112577486, PLOD1 0 0 2 3 3 1 7
ABCD1 1 0 0 0 0 0 1
CLCN6, KIAA2013, MFN2, MTHFR, NPPA, NPPB, PLOD1 0 0 1 0 0 0 1
DCLRE1C 0 1 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 1
MFN2, PLOD1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 58 25 282 526 28 0 919
Illumina Laboratory Services, Illumina 0 0 60 8 17 0 85
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 18 16 22 0 57
Fulgent Genetics, Fulgent Genetics 2 19 12 2 0 0 35
OMIM 10 0 0 0 0 0 10
Baylor Genetics 4 0 5 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Revvity Omics, Revvity 1 0 5 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 3
Mendelics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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