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
72 27 455 59 23 7 632

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 48 11 232 31 10 4 328
COL5A2 9 6 154 17 8 3 194
COL5A1, LOC101448202 12 5 64 11 4 0 96
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 19 429 53 21 0 567
OMIM 20 0 0 0 0 0 20
Mendelics 3 5 2 1 2 0 13
Fulgent Genetics,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
GenomeConnect, ClinGen 0 0 0 0 0 7 7
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
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
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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