ClinVar Miner

Variants in gene RP1L1 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 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
296 8 1 0 15 1 2 18

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.

likely pathogenic uncertain significance likely benign risk factor
likely pathogenic 0 2 0 1
uncertain significance 2 0 15 1
likely benign 0 15 1 0
risk factor 1 1 0 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524

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