ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, dermatosparaxis type

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
56 42 515 941 103 7 1564

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAMTS2 55 42 511 941 103 7 1559
ADAMTS2, GRM6, ZNF354C, ZNF879 0 0 2 0 0 0 2
ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 0 1 0 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 0 1
ADAMTS2, LOC112997581 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 12 373 907 65 0 1410
Natera, Inc. 1 3 143 63 42 0 252
Illumina Laboratory Services, Illumina 1 1 127 19 49 0 197
Genome-Nilou Lab 0 0 0 0 29 0 29
Fulgent Genetics, Fulgent Genetics 0 1 17 4 1 0 23
Myriad Genetics, Inc. 1 21 0 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 10 0 10
Revvity Omics, Revvity 1 1 6 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
Counsyl 0 4 2 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
OMIM 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.