ClinVar Miner

Variants with conflicting interpretations studied for Glycogen storage disease, type VI

Coded as:
Minimum review status of the submission for Glycogen storage disease, type VI: Y axis collection method of the submission for Glycogen storage disease, type VI:
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
39 10 7 9 6 0 6 25

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
Glycogen storage disease, type VI pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 7 1 6 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 5 0 0 3 4
likely benign 0 0 1 0 6
benign 0 0 3 5 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
Glycogen storage disease, type VI 52 4 6 4 4 0 5 18
not specified 0 6 0 6 5 0 1 11
not provided 0 5 1 6 2 0 2 10

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1093-6C>A rs147211684
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) rs113993978
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_002863.5(PYGL):c.1621-6T>C rs74539788
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563

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