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
146 135 537 121 105 960

Gene and significance breakdown #

Total genes and gene combinations: 27
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 56 21 108 26 29 216
CC2D2A 17 24 87 20 8 142
RPGRIP1L 12 3 72 15 12 108
MKS1 15 29 57 10 4 103
TMEM67 14 33 44 3 7 90
NPHP3, NPHP3-ACAD11 3 0 55 9 3 70
TCTN2 6 1 31 8 17 54
TMEM216 5 13 29 2 4 49
TMEM231 7 1 7 6 6 26
B9D2 4 0 16 2 2 23
TCTN1 0 0 5 8 7 20
B9D1 2 1 9 4 4 18
ATP6V0A2, TCTN2 0 0 1 6 2 9
B9D2, TMEM91 0 0 8 0 0 8
C12orf29, CEP290 0 0 5 1 0 6
KIF14 2 0 2 0 0 4
TMEM107 3 0 0 0 0 3
TXNDC15 0 2 0 0 0 2
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
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

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 368 54 18 441
Invitae 64 7 127 60 84 342
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 83
Counsyl 2 30 32 5 0 69
Fulgent Genetics 18 5 41 0 0 64
OMIM 39 0 0 0 0 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 3 0 1 0 31
Genetic Services Laboratory, University of Chicago 15 6 3 0 0 24
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 10 0 0 0 13
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 2 0 0 4
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 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,Institute of Human Genetics 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 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

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.