ClinVar Miner

Variants from Eye Genetics Research Group,Children's Medical Research Institute with conflicting interpretations

Location: Australia — Primary collection method: research
Minimum review status of the submission from Eye Genetics Research Group,Children's Medical Research Institute: Collection method of the submission from Eye Genetics Research Group,Children's Medical Research Institute:
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
36 9 0 4 6 1 4 12

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
Eye Genetics Research Group,Children's Medical Research Institute pathogenic likely pathogenic likely benign benign other
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 4 0 3 4 1
likely benign 0 0 0 1 0
benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter 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
Invitae 0 3 0 2 3 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 0 2 1 2 5
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 2 0 2 5
OMIM 0 5 0 1 0 0 3 4
GeneDx 0 5 0 1 0 0 1 2
Ambry Genetics 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 1 1
PreventionGenetics 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000104.3(CYP1B1):c.868dupC (p.Arg290Profs) rs587778875
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_001195.4(BFSP1):c.1995_1996delTT (p.Ter666Lysfs) rs548358901
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_003380.3(VIM):c.15delC (p.Val6Cysfs) rs864309690
NM_005208.4(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092
NM_005267.4(GJA8):c.134G>C (p.Trp45Ser) rs864309688
NM_005267.4(GJA8):c.658A>G (p.Asn220Asp) rs138140155
NM_012293.2(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697

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