ClinVar Miner

Variants studied for Joubert syndrome; Meckel-Gruber syndrome

Coded as:
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
115 21 543 141 107 927

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CC2D2A 29 6 203 32 26 296
RPGRIP1L 46 7 155 42 25 275
MKS1 19 5 98 37 8 167
TMEM67 11 2 35 7 13 68
TCTN1 4 1 21 12 8 46
TCTN2 5 0 15 5 17 42
B9D1 1 0 13 4 4 22
B9D2 0 0 3 2 5 10
ATP6V0A2, TCTN2 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 115 21 543 141 107 927

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