ClinVar Miner

Variants with conflicting interpretations studied for Creatine deficiency, X-linked

Coded as:
Minimum review status of the submission for Creatine deficiency, X-linked: Y axis collection method of the submission for Creatine deficiency, X-linked:
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
55 17 3 20 7 0 1 29

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
Creatine deficiency, X-linked pathogenic likely pathogenic uncertain significance likely benign
pathogenic 3 1 1 0
uncertain significance 0 0 0 4
likely benign 0 0 1 0
benign 0 0 2 19

Condition to condition summary #

Total conditions: 5
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 15 0 17 3 0 0 20
not provided 0 5 2 3 4 0 0 9
History of neurodevelopmental disorder 0 9 0 4 0 0 0 4
Creatine deficiency, X-linked 96 3 2 0 0 0 0 2
Inborn genetic diseases 0 1 0 1 0 0 1 2

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934

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.