ClinVar Miner

Variants studied for Meckel syndrome, type 1

Included ClinVar conditions (6):
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
111 58 537 68 20 783

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 48 8 114 9 4 183
CC2D2A 16 3 87 9 1 115
MKS1 15 29 63 8 1 107
RPGRIP1L 16 2 77 10 1 106
NPHP3, NPHP3-ACAD11 0 0 51 9 3 63
TMEM67 10 4 47 1 2 63
TCTN2 3 0 31 6 1 41
TMEM216 0 0 20 1 4 25
B9D2 0 0 16 2 1 19
B9D1 2 0 10 4 0 16
C12orf29, CEP290 0 2 6 1 0 9
ATP6V0A2, TCTN2 0 0 1 6 1 8
B9D2, TMEM91 0 0 8 0 0 8
TCTN1 0 0 5 1 1 7
TXNDC15 1 2 0 0 0 3
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
TMEM231 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 368 54 18 441
Invitae 99 15 155 10 2 281
Counsyl 0 21 24 4 0 49
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 15 0 0 0 16
Genetic Services Laboratory, University of Chicago 6 4 3 0 0 13
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 10 0 0 0 13
OMIM 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1

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