ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

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
61 34 346 488 36 4 928

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 60 33 343 485 31 3 916
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 24 283 479 28 0 866
Illumina Laboratory Services, Illumina 0 0 62 8 17 0 87
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 14 16 22 0 53
Fulgent Genetics, Fulgent Genetics 0 0 11 2 0 0 13
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 1 3 0 0 0 0 4
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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