ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, dermatosparaxis type

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 44 515 941 103 7 1566

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 55 44 511 941 103 7 1561
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: 22
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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
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
Pars Genome Lab 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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