ClinVar Miner

Variants from Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana with conflicting interpretations

Location: Mexico  Primary collection method: research
Minimum review status of the submission from Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana: Collection method of the submission from Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana:
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
116 13 0 37 0 0 2 38

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 submitters
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 33 0 0
likely pathogenic 3 0 2 0
benign 0 0 0 1

Submitter to submitter summary #

Total submitters: 24
Download table as spreadsheet
Submitter 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
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 5 0 10 0 0 0 10
3billion 0 6 0 8 0 0 1 9
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 8 0 0 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 6 0 0 0 6
Mendelics 0 4 0 4 0 0 1 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 3 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 9 0 3 0 0 0 3
OMIM 0 2 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 1 0 0 1 2
Baylor Genetics 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 7 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys) rs61752439
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000459.5(TEK):c.1490-1G>A rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs) rs2131119729
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter) rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter) rs2131266023
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs) rs2131141182
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099

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