ClinVar Miner

Variants with conflicting interpretations studied for Aortic aneurysm, familial thoracic 7

Coded as:
Minimum review status of the submission for Aortic aneurysm, familial thoracic 7: Y axis collection method of the submission for Aortic aneurysm, familial thoracic 7:
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
170 67 0 24 14 0 1 38

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
Aortic aneurysm, familial thoracic 7 likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
likely pathogenic 0 1 1 1
uncertain significance 0 0 10 2
likely benign 0 2 0 0
benign 0 2 23 0

Condition to condition summary #

Total conditions: 8
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
Thoracic aortic aneurysm and aortic dissection 0 19 0 21 3 0 1 25
Cardiovascular phenotype 0 51 0 2 3 0 1 6
not specified 0 31 0 1 5 0 0 6
Connective tissue disorder 0 4 0 1 4 0 0 5
not provided 0 38 0 0 4 0 1 5
Aortic aneurysm, familial thoracic 6 0 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 252 22 0 0 1 0 0 1
Familial thoracic aortic aneurysm 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_053025.4(MYLK):c.*1809A>G rs6438804
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.4(MYLK):c.1651+6T>A rs820329
NM_053025.4(MYLK):c.1804+8C>T rs820355
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-6C>A rs200774169
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.4(MYLK):c.4838-3C>T rs776825316
NM_053025.4(MYLK):c.5114+7A>G rs1553774672
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013

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