ClinVar Miner

Variants with conflicting interpretations studied for CHARGE association

Coded as:
Minimum review status of the submission for CHARGE association: Y axis collection method of the submission for CHARGE association:
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
244 152 0 54 33 0 2 77

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
CHARGE association pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 0 1 0 21 9
likely benign 0 0 12 0 30
benign 0 0 14 46 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
not specified 0 14 0 42 17 0 0 52
History of neurodevelopmental disorder 0 16 0 34 12 0 0 42
CHARGE association 401 33 0 29 12 0 0 39
Hypogonadism with anosmia 0 101 0 26 9 0 0 33
not provided 0 48 0 13 15 0 1 27
Inborn genetic diseases 0 1 0 1 1 0 1 3
CHARGE association; Kallmann syndrome 5 0 11 0 0 1 0 0 1
Kallmann syndrome 5 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.3(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.3(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.3(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.3(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.3(CHD7):c.1672C>G (p.Pro558Ala)
NM_017780.3(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) rs377139749
NM_017780.3(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.3(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.3(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.3(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.3(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.3(CHD7):c.2613+4C>T rs779615403
NM_017780.3(CHD7):c.2614-7G>T rs762399977
NM_017780.3(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.3(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.3(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.3(CHD7):c.2835+8T>C rs202141372
NM_017780.3(CHD7):c.2836-2A>T rs878855031
NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.3(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.3(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.3(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.3(CHD7):c.3379-2A>C rs864622523
NM_017780.3(CHD7):c.3613A>G (p.Ile1205Val) rs751726519
NM_017780.3(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.3(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.3(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.3(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.3(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.3(CHD7):c.4534-13T>G rs114996731
NM_017780.3(CHD7):c.5051-4C>T rs71640288
NM_017780.3(CHD7):c.5300+8C>T rs151322460
NM_017780.3(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.3(CHD7):c.5405-17G>A rs794727423
NM_017780.3(CHD7):c.5439C>T (p.Pro1813=) rs373869399
NM_017780.3(CHD7):c.5697C>G (p.Gly1899=) rs528130317
NM_017780.3(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.3(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.3(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.3(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.3(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.3(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038
NM_017780.3(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.3(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.3(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.3(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.3(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.3(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.3(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.3(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.3(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.3(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.3(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.3(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.3(CHD7):c.7165-5A>G rs376076407
NM_017780.3(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.3(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.3(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.3(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.3(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.3(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.3(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.3(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.3(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.3(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308
NM_017780.3(CHD7):c.8322C>G (p.Gly2774=) rs376063472
NM_017780.3(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.3(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.3(CHD7):c.8580C>T (p.Ser2860=) rs767368987
NM_017780.3(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.3(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.3(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017780.3(CHD7):c.90G>A (p.Pro30=) rs374464240

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