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
113 20 241 79 88 502

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 70 11 149 58 75 328
IFT80, TRIM59-IFT80 6 1 59 20 12 94
WDR19 10 0 9 0 0 19
TTC21B 1 3 10 1 1 16
DYNC2I2 5 0 0 0 0 5
EVC2 4 0 1 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
DYNC2I1 2 0 0 0 0 2
IFT43 0 0 2 0 0 2
INTU 0 0 2 0 0 2
KIAA0753 1 1 0 0 0 2
LBR 2 0 0 0 0 2
TRAF3IP1 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
IFT80 1 0 0 0 0 1
IFT81 0 1 0 0 0 1
IFT88 0 0 1 0 0 1
KIAA0586 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
Invitae 17 7 121 62 87 294
Illumina Clinical Services Laboratory,Illumina 0 0 94 17 7 118
Dan Cohn Lab,University Of California Los Angeles 89 4 12 0 0 105
Rare Disease Group, Clinical Genetics,Karolinska Institutet 10 6 17 0 0 33
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 3

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