ClinVar Miner

Variants in gene SPTB with conflicting interpretations

See also:
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
45 97 0 33 3 0 0 35

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 3 1
likely benign 3 0 33
benign 1 33 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498
NM_001355436.2(SPTB):c.300+7T>C rs229581
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806
NM_001355436.2(SPTB):c.4003-12T>C rs78707026
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4564-4G>A rs4902312
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252
NM_001355436.2(SPTB):c.5799-7C>T rs7142689
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411
NM_001355436.2(SPTB):c.6023-8C>T rs56181906
NM_001355436.2(SPTB):c.6269+13C>T rs11622977
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119
NM_001355436.2(SPTB):c.876+5A>G rs230703
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.