ClinVar Miner

Variants with conflicting interpretations studied for Venous thrombosis

Coded as:
Minimum review status of the submission for Venous thrombosis: Y axis collection method of the submission for Venous thrombosis:
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
2 123 0 27 3 2 2 32

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
Venous thrombosis pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 0 1 0 0 0 1 0
uncertain significance 2 0 1 3 1 0 1
likely benign 0 0 0 27 0 0 0

Condition to condition summary #

Total conditions: 10
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 0 0 27 3 0 0 30
Ischemic stroke, susceptibility to 0 0 0 0 0 1 0 1
MTHFR deficiency, thermolabile type 0 0 0 0 1 0 1 1
Neural tube defects, folate-sensitive 0 0 0 0 1 0 0 1
Pregnancy loss, recurrent, susceptibility to, 2 0 0 0 0 0 1 0 1
Venous thrombosis 155 1 0 0 0 0 1 1
carboplatin response - Efficacy 0 0 0 0 0 1 0 1
cyclophosphamide response - Toxicity/ADR 0 0 0 0 0 1 0 1
methotrexate response - Dosage, Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1
not provided 0 1 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000506.4(F2):c.*97G>A rs1799963
NM_000506.4(F2):c.1233G>A (p.Pro411=) rs5898
NM_000506.4(F2):c.1602G>A (p.Pro534=) rs5900
NM_000506.4(F2):c.1787G>T (p.Arg596Leu) rs387907201
NM_000506.4(F2):c.423-7G>C rs2070852
NM_000506.4(F2):c.480C>T (p.Pro160=) rs3136452
NM_000506.4(F2):c.494C>T (p.Thr165Met) rs5896
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133

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