ClinVar Miner

Variants in gene SGCD with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
556 146 0 28 24 0 2 48

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 21 8
likely benign 1 0 21 0 27
benign 0 0 8 27 0

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00715
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.6(SGCD):c.*4340_*4341dup rs556887176
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.699+13_699+15del rs397517924

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