ClinVar Miner

Variants in gene SGCB 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
240 20 0 13 7 0 1 20

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 11 1 0 0
likely pathogenic 11 0 0 0 0
uncertain significance 1 0 0 7 1
likely benign 0 0 7 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000232.4(SGCB):c.265G>A (p.Val89Met) rs762652676
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.4(SGCB):c.498C>T (p.Ile166=) rs748602445
NM_000232.4(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.4(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.4(SGCB):c.621+1G>T rs1264362642
NM_000232.4(SGCB):c.622-2A>G rs780596734
NM_000232.4(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.4(SGCB):c.768C>T (p.Ile256=) rs149121189
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942

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