ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, spondylodysplastic type

Included ClinVar conditions (7):
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
26 8 371 389 35 4 810

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
B3GALT6 14 5 141 103 8 0 265
SLC39A13 2 0 95 154 13 1 262
B4GALT7 9 2 122 123 14 3 261
B4GALT7, LOC129995400 1 1 8 9 0 0 17
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 0 0 1 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, CPTP, DVL1, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TAS1R3, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 0 1
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, EIF4E1B, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 3 356 388 33 0 788
OMIM 17 0 0 0 0 0 17
Fulgent Genetics, Fulgent Genetics 1 0 7 2 0 0 10
Revvity Omics, Revvity 0 2 6 0 0 0 8
Baylor Genetics 1 0 6 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
Division of Biology and Genetics, University of Brescia 3 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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.