ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (2):
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
85 37 404 193 121 5 834

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 39 6 182 99 51 3 372
COL5A2 8 5 123 46 37 2 218
COL1A2 28 22 48 23 19 0 140
COL5A1, LOC101448202 8 3 47 25 14 0 97
COL1A1 2 0 0 0 0 0 2
FLNA 0 0 1 0 0 0 1
MED12 0 0 1 0 0 0 1
MYH11 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
TGFBR1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 60 34 377 188 120 0 779
OMIM 20 0 0 0 0 0 20
Fulgent Genetics 0 0 12 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
Center for Human Genetics, Inc 0 1 5 5 0 0 11
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1 0 2
Mendelics 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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