ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, classic type

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
96 39 644 237 159 11 1142

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 66 16 320 147 78 6 601
COL5A2 11 8 221 55 44 4 336
COL5A1, LOC101448202 16 10 98 35 36 1 191
COL1A2 2 4 0 0 1 0 7
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, C9orf116, C9orf62, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, MED22, MED27, MRPS2, MYMK, NTNG2, OBP2A, OBP2B, OLFM1, PAEP, POMT1, PPP1R26, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SETX, SLC2A6, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, TTF1, UCK1, VAV2, WDR5 0 0 1 0 0 0 1
COL1A1 1 0 0 0 0 0 1
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 70 29 617 198 112 0 1026
Illumina Clinical Services Laboratory,Illumina 0 0 1 55 55 0 111
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 7 30 0 40
OMIM 20 0 0 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 14 0 0 0 15
Mendelics 3 5 2 1 2 0 13
Fulgent Genetics,Fulgent Genetics 0 0 12 0 0 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 5 5 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 6 0 0 0 6
Baylor Genetics 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
Blueprint Genetics 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1

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