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 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
338 34 0 19 14 0 1 31

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 9 8
likely benign 0 9 0 19
benign 0 8 19 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_006946.3(SPTBN2):c.1161C>T (p.Arg387=) rs74909073
NM_006946.3(SPTBN2):c.1416G>A (p.Thr472=) rs145249947
NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_006946.3(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321
NM_006946.3(SPTBN2):c.2064C>T (p.Gly688=) rs376219874
NM_006946.3(SPTBN2):c.2262C>T (p.Ala754=) rs368022952
NM_006946.3(SPTBN2):c.2526C>T (p.Gly842=) rs144939155
NM_006946.3(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.3(SPTBN2):c.2817-8G>T rs142540439
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890
NM_006946.3(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361
NM_006946.3(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378
NM_006946.3(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868
NM_006946.3(SPTBN2):c.406A>G (p.Met136Val) rs150610657
NM_006946.3(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414
NM_006946.3(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497
NM_006946.3(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385
NM_006946.3(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813
NM_006946.3(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364
NM_006946.3(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428
NM_006946.3(SPTBN2):c.963C>T (p.Ile321=) rs1456985458
NM_006946.4(SPTBN2):c.1438C>T rs397514749
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203

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