ClinVar Miner

Variants in gene SMARCAL1 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
274 34 0 9 22 0 2 32

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 5 1 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 1 1 0 20 3
likely benign 0 0 20 0 4
benign 0 0 3 4 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350
NM_014140.4(SMARCAL1):c.2765T>C rs200431186
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)

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