ClinVar Miner

Variants in gene BIN1 with conflicting interpretations

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
294 21 0 15 16 0 1 28

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 4 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 12 5
likely benign 0 0 12 0 11
benign 0 0 5 11 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_139343.3(BIN1):c.1003-16C>T rs547659375
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502
NM_139343.3(BIN1):c.1132-7T>C rs115938552
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787
NM_139343.3(BIN1):c.1263+11C>T rs78967885
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579

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