ClinVar Miner

Variants studied for Jeune thoracic dystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
107 16 334 61 66 546

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 68 8 164 36 51 296
TTC21B 1 3 61 14 5 84
WDR19 10 0 48 5 2 65
IFT80, TRIM59-IFT80 4 0 47 6 8 58
EVC2 4 0 1 0 0 5
WDR34 5 0 0 0 0 5
IFT140, LOC105371046 4 0 0 0 0 4
WDR35 4 0 0 0 0 4
C2CD3 0 0 2 0 0 2
IFT43 0 0 2 0 0 2
INTU 0 0 2 0 0 2
LBR 2 0 0 0 0 2
TRAF3IP1 2 0 0 0 0 2
WDR60 2 0 0 0 0 2
B9D1 0 0 1 0 0 1
FLVCR1 0 1 0 0 0 1
FUZ 0 0 1 0 0 1
IFT140 1 0 0 0 0 1
IFT52 0 0 1 0 0 1
IFT74 0 0 1 0 0 1
IFT81 0 1 0 0 0 1
IFT88 0 0 1 0 0 1
KIAA0586 0 1 0 0 0 1
KIAA0753 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 1
NEK1 0 0 1 0 0 1
SLTM 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 269 47 22 338
Invitae 13 4 44 14 44 119
Dan Cohn Lab,University Of California Los Angeles 89 4 12 0 0 105
Rare Disease Group, Clinical Genetics,Karolinska Institutet 8 5 17 0 0 30
University of Washington Center for Mendelian Genomics,University of Washington 0 3 0 0 0 3

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