ClinVar Miner

Variants with conflicting interpretations studied for Myasthenic syndrome, congenital, 8

Coded as:
Minimum review status of the submission for Myasthenic syndrome, congenital, 8: Y axis collection method of the submission for Myasthenic syndrome, congenital, 8:
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
275 29 0 38 8 0 0 43

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
Myasthenic syndrome, congenital, 8 uncertain significance likely benign benign
uncertain significance 0 1 0
likely benign 4 0 3
benign 4 35 0

Condition to condition summary #

Total conditions: 3
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 18 0 35 3 0 0 37
not provided 0 11 0 7 5 0 0 12
Myasthenic syndrome, congenital, 8 341 5 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063
NM_198576.4(AGRN):c.11G>C (p.Arg4Pro) rs539283387
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306
NM_198576.4(AGRN):c.2025C>G (p.Gly675=) rs28484890
NM_198576.4(AGRN):c.2067G>A (p.Gln689=) rs139886237
NM_198576.4(AGRN):c.2406C>T (p.Gly802=) rs75774767
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048
NM_198576.4(AGRN):c.2682C>T (p.Asp894=) rs118105080
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855
NM_198576.4(AGRN):c.2805+7G>A rs190000918
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg) rs142416636
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=) rs75361935
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp) rs184970403
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=) rs201483077
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=) rs368555478
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys) rs201346452
NM_198576.4(AGRN):c.4298+6C>T rs199977575
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=) rs75767981
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068
NM_198576.4(AGRN):c.4695G>C (p.Gln1565His) rs199876002
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272
NM_198576.4(AGRN):c.5254-5C>T rs34708466
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr) rs74685771
NM_198576.4(AGRN):c.5896C>T (p.Leu1966=) rs115828965
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369
NM_198576.4(AGRN):c.738C>T (p.Asp246=) rs536085218
NM_198576.4(AGRN):c.752T>C (p.Val251Ala) rs779170859
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile) rs200607541

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.