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
294 178 1197 284 189 1951

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 122 35 292 85 43 523
RPGRIP1L 47 10 196 46 28 301
CC2D2A 31 35 209 32 27 295
MKS1 26 32 131 43 11 217
TMEM67 19 36 83 10 14 141
NPHP3, NPHP3-ACAD11 4 1 88 11 5 109
TCTN2 8 1 65 9 19 91
TMEM216 5 13 38 4 5 61
TMEM231 7 1 18 15 10 49
TCTN1 4 1 8 12 8 33
B9D1 3 1 20 6 7 32
B9D2 4 2 17 3 5 30
C12orf29, CEP290 7 1 16 2 1 27
ATP6V0A2, TCTN2 0 0 1 5 6 10
B9D2, TMEM91 0 0 8 0 0 8
KIF14 2 0 2 0 0 4
TMEM107 3 0 0 0 0 3
TXNDC15 1 2 0 0 0 3
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
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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 242 40 558 229 159 1228
Illumina Clinical Services Laboratory,Illumina 0 1 657 49 60 766
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
OMIM 39 0 0 0 0 39
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
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
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
Baylor Genetics 0 0 2 0 0 2
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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 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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