ClinVar Miner

Variants studied for Meckel syndrome

Included ClinVar conditions (30):
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
446 215 1500 729 189 2853

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 198 46 387 273 43 887
RPGRIP1L 78 19 252 147 28 494
CC2D2A 48 41 290 92 27 448
MKS1 36 38 168 97 11 316
TMEM67 25 36 91 23 14 165
NPHP3, NPHP3-ACAD11 7 1 91 11 5 115
TCTN2 9 4 72 15 19 105
TMEM231 8 2 32 21 10 71
TMEM216 5 13 38 4 5 61
TCTN1 4 1 21 22 8 56
B9D1 3 1 25 9 7 40
C12orf29, CEP290 12 1 19 6 1 38
B9D2 4 2 3 2 5 16
ATP6V0A2, TCTN2 0 0 1 5 6 10
KIF14 2 1 5 0 0 8
TMEM107 3 0 0 0 0 3
TXNDC15 1 2 0 0 0 3
TMEM218 2 0 0 0 0 2
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 1
CCDC172 0 0 1 0 0 1
CEP295 0 0 1 0 0 1
CSPP1 0 1 0 0 0 1
DUOX2 0 0 0 1 0 1
EVC2 0 1 0 0 0 1
EXOC3L2 0 1 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 1
FAM166B 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
KIAA0586 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 1
TMEM138 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1
TTC6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 386 71 879 675 159 2170
Illumina Clinical Services Laboratory,Illumina 0 1 635 48 59 742
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 83
Counsyl 1 31 33 5 0 70
Fulgent Genetics,Fulgent Genetics 18 5 41 0 0 64
Natera, Inc. 3 1 25 6 5 40
OMIM 39 0 0 0 0 39
Baylor Genetics 7 2 18 0 0 27
Genetic Services Laboratory, University of Chicago 14 7 3 0 0 24
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 13 4 0 0 21
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 7 0 0 0 13
Kasturba Medical College, Manipal University 2 6 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 5 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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