ClinVar Miner

Variants with conflicting interpretations studied for Loeys-Dietz syndrome

Coded as:
Minimum review status of the submission for Loeys-Dietz syndrome: Y axis collection method of the submission for Loeys-Dietz syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
102 310 0 31 24 0 6 53

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Loeys-Dietz syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 5 0 3 0 1
uncertain significance 1 1 0 15 6
likely benign 1 1 10 0 24
benign 0 0 2 3 0

Condition to condition summary #

Total conditions: 23
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 17 0 22 15 0 1 35
Thoracic aortic aneurysm and aortic dissection 0 313 0 15 13 0 2 29
Cardiovascular phenotype 0 22 0 14 7 0 2 22
not provided 0 12 0 14 6 0 2 21
Loeys-Dietz syndrome 454 5 0 5 2 0 0 6
Holt-Oram syndrome 0 3 0 5 0 0 0 5
Connective tissue disorder 0 5 0 1 3 0 1 4
Loeys-Dietz syndrome 4 0 0 0 1 3 0 0 3
Marfan syndrome 0 90 0 2 2 0 0 3
Ehlers-Danlos syndrome, type 4 0 0 0 1 1 0 0 2
Loeys-Dietz syndrome 1 0 108 0 2 1 0 0 2
Altered myosin contractile function 0 0 0 0 1 0 0 1
Aortic aneurysm 0 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 1 0 0 1
Congenital aneurysm of ascending aorta 0 1 0 0 1 0 0 1
Congenital contractural arachnodactyly 0 0 0 0 1 0 0 1
Ehlers-Danlos syndrome 0 0 0 0 1 0 0 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colorectal cancer type 6 0 1 0 0 0 0 1 1
Hirschsprung disease 1 0 0 0 0 1 0 0 1
Loeys-Dietz syndrome 2 0 2 0 1 0 0 0 1
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 0 0 1 0 0 1
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Hereditary nonpolyposis colorectal cancer type 6 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_001024847.2(TGFBR2):c.1090C>T (p.Arg364Trp) rs761991787
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.594+38_594+43dup rs10482769
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.882T>A (p.Thr294=) rs376354795
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1525-8C>T rs11466530
NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.5(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.5(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.5(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_004612.2(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_005902.3(SMAD3):c.207-10G>A rs201912204
NM_005902.3(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.3(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.3(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.3(SMAD3):c.607+9T>A rs886051380
NM_005902.3(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.3(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.3(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005902.3(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.3(SMAD3):c.984G>A (p.Pro328=) rs150994304

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