ClinVar Miner

Variants with conflicting interpretations studied for Macular dystrophy

Coded as:
Minimum review status of the submission for Macular dystrophy: Collection method of the submission for Macular 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 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
18 16 0 31 2 1 17 43

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
Macular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor
pathogenic 0 9 3 2 1 1 1
likely pathogenic 26 0 10 2 1 1 1
uncertain significance 3 2 0 2 1 0 0
likely benign 0 0 0 0 1 0 0

Condition to condition summary #

Total conditions: 11
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 17 0 31 2 1 14 41
not specified 0 1 0 4 1 0 2 7
Macular dystrophy 70 2 0 5 0 0 0 5
PRPH2-Related Disorders 0 1 0 3 0 0 2 5
ABCA4-related condition 0 3 0 4 0 0 0 4
ABCA4-Related Disorders 0 2 0 2 0 0 0 2
CRB1-related maculopathy 0 0 0 2 0 0 0 2
CRB1-Related Disorders 0 0 0 1 0 0 0 1
CRB1-related condition 0 1 0 1 0 0 0 1
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
TTC8-related condition 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478 0.00002
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875 0.00002
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_000322.5(PRPH2):c.276dup (p.Arg93fs) rs1582780842
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe) rs753657349
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs) rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) rs144437882
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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