ClinVar Miner

Variants in gene BEST1 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 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
155 45 0 13 2 0 5 19

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 8 1 1 0
likely pathogenic 8 0 3 0 1
uncertain significance 1 3 0 1 1
likely benign 1 0 1 0 5
benign 0 1 1 5 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_004183.3(BEST1):c.153-7_153-2delCCCCCA rs398124110
NM_004183.3(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.3(BEST1):c.715-12_715-4dupTCCTCCTCC rs1805182
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.637-6C>T rs62639356
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218

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