ClinVar Miner

Variants with conflicting interpretations studied for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L

Coded as:
Minimum review status of the submission for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L: Y axis collection method of the submission for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L:
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
37 37 0 16 11 0 7 30

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
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 3 1 0
likely pathogenic 2 0 0 0
uncertain significance 1 6 0 3
likely benign 0 0 5 0
benign 0 0 3 11

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 provided 0 42 0 5 7 0 6 18
not specified 0 8 0 10 4 0 0 13
Limb-Girdle Muscular Dystrophy, Recessive 0 3 0 0 4 0 0 4
Miyoshi myopathy 0 3 0 0 4 0 0 4
Limb-girdle muscular dystrophy, type 2L 0 3 0 3 0 0 1 3
ANO5-Related Disorders 0 1 0 1 0 0 1 2
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 0 2 0 1 0 0 0 1
Muscular dystrophy 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.1031C>G (p.Pro344Arg) rs541372136
NM_213599.2(ANO5):c.1095A>G (p.Leu365=) rs35804601
NM_213599.2(ANO5):c.1120-1G>A rs561719071
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.2(ANO5):c.1545A>G (p.Ser515=) rs35843353
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.169C>T (p.Arg57Trp) rs1323349209
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.2(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NM_213599.2(ANO5):c.2503_2505delTTC (p.Phe835del) rs794727350
NM_213599.2(ANO5):c.2521-1delG rs752982710
NM_213599.2(ANO5):c.2521-7C>T rs201438159
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NM_213599.2(ANO5):c.294G>A (p.Ala98=) rs142858990
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.604G>A (p.Glu202Lys) rs115750596
NM_213599.2(ANO5):c.616A>G (p.Thr206Ala) rs78266558
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.879-7_879-6delTT rs143977836

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