ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Department of Ophthalmology and Visual Sciences Kyoto University

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
6 0 3 26 4 0 0 33

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 benign
uncertain significance 4
likely benign 3
benign 26

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138

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