ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Dominant

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Dominant: Collection method of the submission for Retinitis Pigmentosa, Dominant:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
83 51 0 11 14 0 1 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.

All conditions
Retinitis Pigmentosa, Dominant likely pathogenic likely benign benign
uncertain significance 1 7 8
likely benign 0 0 11

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 16 0 10 13 0 0 23
not specified 0 2 0 7 2 0 0 9
PRPH2-Related Disorders 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) rs112828880 0.00620
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_013342.4(TFPT):c.-350G>T rs45619231 0.00456
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*484del rs55851577
NM_001031710.3(KLHL7):c.443-10_443-9del rs774048435
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_174878.3(CLRN1):c.*265AT[5] rs550716419
NM_174878.3(CLRN1):c.*277GT[12] rs34027634
NM_174878.3(CLRN1):c.*277GT[15] rs34027634
NM_174878.3(CLRN1):c.*277GT[16] rs34027634

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