ClinVar Miner

Variants with conflicting interpretations studied for Retinal dystrophy

Coded as:
Minimum review status of the submission for Retinal dystrophy: Y axis collection method of the submission for Retinal dystrophy:
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 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
194 116 3 42 2 3 24 65

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
Retinal dystrophy pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 3 7 2 0 0 0 2
likely pathogenic 35 0 10 2 1 1 0
uncertain significance 4 9 0 1 1 0 0
likely benign 0 0 0 0 2 0 0

Condition to condition summary #

Total conditions: 60
Download table as spreadsheet
Condition 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
not provided 0 32 0 21 0 2 11 33
Stargardt disease 1 0 9 0 11 0 0 1 12
Retinitis pigmentosa 0 13 1 4 0 0 3 8
not specified 0 2 0 2 2 0 2 6
Cone-rod dystrophy 3 0 0 0 5 0 0 0 5
Inborn genetic diseases 0 1 0 4 0 0 1 5
Retinal dystrophy 370 1 0 2 0 0 2 4
Usher syndrome, type 1 0 0 0 2 0 0 2 4
ABCA4-Related Disorders 0 2 0 2 0 0 1 3
Age-related macular degeneration 2 0 1 0 2 0 0 0 2
Bardet-Biedl syndrome 0 0 0 1 0 0 1 2
CRB1-Related Disorders 0 0 0 2 0 0 0 2
Cone-rod dystrophy 12 0 0 0 2 0 0 0 2
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 0 1 0 2 0 0 0 2
Meckel syndrome type 4 0 0 0 2 0 0 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 0 2 0 0 0 2
Retinitis pigmentosa 41 0 2 0 2 0 0 0 2
Usher syndrome, type 2A 0 2 0 1 0 0 1 2
Abnormal macular morphology; Peripheral neuropathy 0 0 0 0 0 0 1 1
Achromatopsia 3 0 0 1 0 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 1 0 0 0 1 0 0 0 1
Bestrophinopathy, autosomal recessive 0 0 0 0 0 0 1 1
Bull's eye macular dystrophy 0 0 0 1 0 0 0 1
Cone-Rod Dystrophy, Recessive 0 0 0 0 0 0 1 1
Cone-rod dystrophy 0 1 0 1 0 0 0 1
Cone-rod dystrophy 6 0 0 0 1 0 0 0 1
Enhanced s-cone syndrome 0 0 0 1 0 0 0 1
Enhanced s-cone syndrome; Retinitis pigmentosa 37 0 0 0 1 0 0 0 1
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 0 0 1 0 0 0 1
Leber congenital amaurosis 0 53 0 1 0 0 0 1
Leber congenital amaurosis 13 0 0 1 0 0 0 0 1
Leber congenital amaurosis 2 0 0 0 1 0 0 0 1
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 0 0 1 0 0 0 1
Leber congenital amaurosis 8 0 0 0 1 0 0 0 1
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
Macular dystrophy 0 2 0 1 0 0 0 1
NR2E3-Related Disorders 0 0 0 1 0 0 0 1
PROM1-Related Disorders 0 0 0 1 0 0 0 1
Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 0 0 1 0 0 0 1
Retinitis Pigmentosa, Dominant 0 0 0 0 0 0 1 1
Retinitis Pigmentosa, Recessive 0 53 0 0 0 0 1 1
Retinitis pigmentosa 12 0 0 0 1 0 0 0 1
Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 0 0 1 0 0 0 1
Retinitis pigmentosa 19 0 0 0 1 0 0 0 1
Retinitis pigmentosa 20 0 0 0 1 0 0 0 1
Retinitis pigmentosa 25 0 1 0 1 0 0 0 1
Retinitis pigmentosa 37 0 0 0 1 0 0 0 1
Retinitis pigmentosa 39 0 1 0 1 0 0 0 1
Retinitis pigmentosa 73 0 0 0 1 0 0 0 1
Seizures 0 0 0 0 0 0 1 1
Senior-Loken syndrome 6 0 1 0 1 0 0 0 1
Stargardt Disease, Recessive 0 0 0 0 0 0 1 1
Stargardt disease 0 0 0 1 0 0 0 1
Stargardt disease 4 0 0 0 1 0 0 0 1
USH2A-Related Disorders 0 0 0 1 0 0 0 1
Usher syndrome, type 1F 0 1 0 0 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 8 0 0 0 0 1 1
Visual impairment; Retinal dystrophy; Abnormality of color vision; Horizontal nystagmus 0 0 0 1 0 0 0 1
Visual loss; Blindness; Macular degeneration 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000260.3(MYO7A):c.132+5G>A rs397516284
NM_000260.3(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.3(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000329.2(RPE65):c.11+5G>A rs61751276
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.2(ABCA4):c.4253+5G>A rs61750138
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) rs199584830
NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) rs753690225
NM_001142800.1(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001145849.1(PROM1):c.1177_1178delAT (p.Ile393Argfs) rs746174328
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_004183.3(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004744.3(LRAT):c.473G>A (p.Trp158Ter) rs878853351
NM_006017.2(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.2(PROM1):c.1354dupT (p.Tyr452Leufs) rs543698823
NM_006017.2(PROM1):c.1579-1G>C rs372513650
NM_006269.1(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.1(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006343.2(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_014014.4(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_015404.3(WHRN):c.1627-5T>A rs187221008
NM_015629.3(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_022124.5(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_031433.3(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_033028.4(BBS4):c.712-1G>A rs377031435
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) rs386834261
NM_152778.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_172337.2(OTX2):c.*10G>A rs171978
NM_172337.2(OTX2):c.435C>T (p.Ser145=) rs34537598
NM_181714.3(LCA5):c.633_639delAGCTAGA (p.Glu211Aspfs) rs878853382
NM_201253.2(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_206933.2(USH2A):c.11549-1G>A rs878853407
NM_206933.2(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.2(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.