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
65 60 530 979 104 7 1641

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAMTS2 64 60 526 979 104 7 1636
ADAMTS2, GRM6, ZNF354C, ZNF879 0 0 2 0 0 0 2
ADAMTS2, ARL10, B4GALT7, 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, SPATA31J1, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 1
ADAMTS2, LOC112997581 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 14 387 943 66 0 1471
Natera, Inc. 1 3 143 63 42 0 252
Illumina Laboratory Services, Illumina 1 1 125 21 49 0 197
Fulgent Genetics, Fulgent Genetics 1 15 24 4 1 0 45
Genome-Nilou Lab 0 0 0 0 29 0 29
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 4
OMIM 3 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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