ClinVar Miner

Variants in gene SPTBN2 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 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
208 13 0 16 6 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 4 4
likely benign 4 0 16
benign 4 16 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_006946.3(SPTBN2):c.1011T>G (p.Leu337=) rs34275473
NM_006946.3(SPTBN2):c.1351-7G>T rs116078747
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_006946.3(SPTBN2):c.234G>A (p.Val78=) rs78309877
NM_006946.3(SPTBN2):c.249C>T (p.Ser83=) rs141552965
NM_006946.3(SPTBN2):c.285C>T (p.Leu95=) rs34117933
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.3671A>G (p.Asn1224Ser)
NM_006946.3(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.4899G>A (p.Leu1633=) rs639938
NM_006946.3(SPTBN2):c.5340C>T (p.Asn1780=) rs623022
NM_006946.3(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855
NM_006946.3(SPTBN2):c.585C>T (p.Asn195=) rs34775878
NM_006946.3(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217
NM_006946.3(SPTBN2):c.885+5T>C rs114331192
NM_006946.3(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428

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