ClinVar Miner

Variants in gene CDHR1 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
362 14 0 10 15 0 2 23

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 2 1 0 1
likely pathogenic 2 0 2 0 1
uncertain significance 1 2 0 11 6
likely benign 0 0 11 0 8
benign 1 1 6 8 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644
NM_033100.4(CDHR1):c.1553+6T>C rs199567321
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.297+6G>A rs79239487
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715
NM_033100.4(CDHR1):c.526-7C>G rs190906755
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr) rs147420731
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) rs141173656
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_033100.4(CDHR1):c.863-9C>T rs4933977

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