ClinVar Miner

Variants with conflicting interpretations studied for Stargardt Disease, Recessive

Coded as:
Minimum review status of the submission for Stargardt Disease, Recessive: Y axis collection method of the submission for Stargardt Disease, Recessive:
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
0 110 4 34 19 3 13 53

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
Stargardt Disease, Recessive pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
likely pathogenic 0 0 2 1 0 0 0
uncertain significance 1 1 0 4 2 0 0
likely benign 5 8 14 4 33 2 1
benign 0 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 17
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 specified 0 14 0 32 6 0 0 37
not provided 0 31 4 7 9 0 3 22
Stargardt disease 1 0 2 0 0 4 1 11 16
Cone-Rod Dystrophy, Recessive 0 100 0 0 0 0 2 2
Cone/cone-rod dystrophy 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Macular degeneration 0 100 0 0 0 0 2 2
Retinitis Pigmentosa, Recessive 0 100 0 0 0 0 2 2
ABCA4-Related Disorders 0 3 0 0 1 0 0 1
Abnormality of the eye 0 0 0 0 0 0 1 1
Achromatopsia 0 60 0 0 0 0 1 1
Achromatopsia 3 0 0 0 0 0 0 1 1
CNGB3-Related Disorders 0 0 0 0 0 0 1 1
Cone-rod dystrophy 3 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Macular dystrophy 0 1 0 0 0 0 1 1
Retinal dystrophy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019098.4(CNGB3):c.339-10dupT rs200792506
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557

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