ClinVar Miner

Variants studied for Thoracic aortic aneurysm and aortic dissection

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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
87 79 996 620 250 1889

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 24 32 137 144 56 363
SMAD3 23 9 150 63 16 254
TGFBR2 14 7 126 64 19 218
TGFBR1 9 5 134 51 15 213
MYLK 0 2 124 52 5 177
MYH11, NDE1 1 2 95 75 33 171
MYH11 0 3 89 68 40 158
COL3A1 2 4 42 39 31 116
NOTCH1 0 1 34 21 25 81
ACTA2 4 5 20 10 2 36
SLC2A10 1 1 6 2 5 15
TGFB2 0 0 9 3 2 13
FBN2 0 0 8 1 0 9
MAT2A 0 0 3 6 0 9
ACTA2, FAS 0 0 3 5 0 8
COL5A2 0 2 3 1 0 6
TGFBR3 0 0 1 5 0 6
SMAD4 0 0 3 1 1 5
TGFB3 0 1 2 2 0 5
FBN1, LOC113939944 1 0 1 3 0 4
BGN 3 0 0 0 0 3
COL5A1 0 1 1 1 0 3
GATA5 0 0 2 1 0 3
PRKG1 0 0 2 1 0 3
ATP2B3, BGN 2 0 0 0 0 2
COL1A1 0 2 0 0 0 2
COL5A1, LOC101448202 0 0 1 1 0 2
ALG2, TGFBR1 1 0 0 0 0 1
LINC02206, LOC102723493, LOC110120917, LOC111365216, LOC111413015, LOC111413043, SMAD3, SMAD6 1 0 0 0 0 1
LINC02206, LOC102723493, LOC110120917, LOC111413015, LOC111413043, SMAD3, SMAD6 1 0 0 0 0 1
LOX 0 1 0 0 0 1
LOX, SRFBP1 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 0 464 294 52 809
Color 2 1 164 233 151 551
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 9 24 135 85 78 331
Invitae 45 10 199 23 3 279
Blueprint Genetics 1 2 39 9 2 53
Ambry Genetics 3 0 5 13 21 42
Centre for Genomic and Experimental Medicine,University of Edinburgh 16 26 0 0 0 42
Center for Human Genetics, Inc 2 1 10 12 0 25
GeneDx 4 1 0 1 10 16
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 3 11 0 0 0 14
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 4 0 0 0 6
Centre of Medical Genetics, University of Antwerp 5 0 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 0 0 4

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