ClinVar Miner

Variants with conflicting interpretations studied for Arthrogryposis multiplex congenita

Coded as:
Minimum review status of the submission for Arthrogryposis multiplex congenita: Y axis collection method of the submission for Arthrogryposis multiplex congenita:
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
3 25 0 8 10 0 1 19

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
Arthrogryposis multiplex congenita uncertain significance likely benign benign
pathogenic 1 0 0
uncertain significance 0 6 5
likely benign 1 0 8

Condition to condition summary #

Total conditions: 7
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 3 0 5 4 0 0 9
not provided 0 3 0 1 5 0 0 6
Distal arthrogryposis type 2B 0 3 0 4 1 0 0 5
Distal arthrogryposis type 1A 0 0 0 2 0 0 0 2
Arthrogryposis multiplex congenita 46 0 0 0 1 0 0 1
Freeman-Sheldon syndrome 0 4 0 0 1 0 0 1
Lethal congenital contracture syndrome 9 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.5457+9dup rs397750512
NM_003282.4(TNNI2):c.*94C>T rs117830156
NM_003282.4(TNNI2):c.387G>A (p.Ser129=) rs139399106
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610
NM_003282.4(TNNI2):c.61G>A (p.Val21Met) rs200110633
NM_006757.4(TNNT3):c.*36C>T rs147535560
NM_006757.4(TNNT3):c.*86C>T rs200540491
NM_006757.4(TNNT3):c.107-6G>A rs200739738
NM_006757.4(TNNT3):c.367-9T>C rs76471485
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) rs2292470
NM_006757.4(TNNT3):c.429G>A (p.Lys143=) rs184687090
NM_006757.4(TNNT3):c.480+9C>T rs374137056
NM_006757.4(TNNT3):c.759C>T (p.Val253=) rs140388684
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) rs749355583
NM_213674.1(TPM2):c.772+1001_772+1002insA rs1554658501
NM_213674.1(TPM2):c.772+995_772+997dup rs35401252
NM_213674.1(TPM2):c.772+995dup rs35401252

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.