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
71 51 500 112 95 772

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 28 6 105 26 29 175
CC2D2A 10 2 80 20 8 111
MKS1 15 29 57 10 4 103
RPGRIP1L 8 0 70 14 12 99
NPHP3, NPHP3-ACAD11 0 0 51 9 3 63
TMEM67 7 4 41 3 7 58
TCTN2 3 0 31 7 14 49
TMEM216 0 0 20 1 4 25
TCTN1 0 0 5 8 7 20
B9D2 0 0 16 2 2 19
B9D1 0 0 9 4 3 15
ATP6V0A2, TCTN2 0 0 1 6 2 9
B9D2, TMEM91 0 0 8 0 0 8
C12orf29, CEP290 0 0 5 1 0 6
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
TMEM231 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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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 60 7 123 54 78 322
Counsyl 1 20 23 4 0 48
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 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1

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