ClinVar Miner

Variants studied for Carpenter syndrome

Included ClinVar conditions (3):
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 total
39 30 301 419 82 846

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MEGF8 17 18 230 276 67 602
RAB23 22 12 41 136 9 201
BAG2, RAB23 0 0 27 5 6 38
LOC130064579, MEGF8 0 0 2 1 0 3
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 1
MEGF8, MIR8077 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 25 7 223 407 72 734
Illumina Laboratory Services, Illumina 0 0 51 8 7 66
Natera, Inc. 2 0 5 10 3 20
Baylor Genetics 2 0 12 0 0 14
Fulgent Genetics, Fulgent Genetics 2 6 3 1 0 12
Genome-Nilou Lab 0 1 0 2 9 12
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford 3 4 3 0 0 10
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 1 0 6 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1

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