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 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
313 56 0 15 1 0 12 26

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 13 6 1 0
likely pathogenic 13 0 5 0 0
uncertain significance 6 5 0 1 0
likely benign 1 0 1 0 2
benign 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_004183.3(BEST1):c.884_886delTCA (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
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.682G>A (p.Asp228Asn) rs267606676
NM_004183.4(BEST1):c.703G>T (p.Val235Leu)
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218

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