ClinVar Miner

Variants in gene SPTA1 with conflicting interpretations

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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
278 57 0 7 13 0 5 24

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 0 2 1
likely pathogenic 1 0 1 0 2
uncertain significance 0 1 0 6 7
likely benign 2 0 6 0 6
benign 1 2 7 6 0

All variants with conflicting interpretations #

Total variants: 24
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NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.4(SPTA1):c.6531-12C>T rs28525570
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302

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