ClinVar Miner

Variants from Molecular Genetics Laboratory,Institute for Ophthalmic Research with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Molecular Genetics Laboratory,Institute for Ophthalmic Research: Collection method of the submission from Molecular Genetics Laboratory,Institute for Ophthalmic Research:
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
528 24 2 35 1 0 16 50

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
Molecular Genetics Laboratory,Institute for Ophthalmic Research pathogenic likely pathogenic uncertain significance benign
pathogenic 2 33 13 0
likely pathogenic 2 0 2 0
uncertain significance 1 0 0 1

Submitter to submitter summary #

Total submitters: 13
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
Counsyl 0 4 0 14 0 0 2 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 8 0 0 2 10
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 1 0 6 7
Invitae 0 0 0 1 0 0 5 6
Sharon lab,Hadassah-Hebrew University Medical Center 0 6 0 5 0 0 0 5
GeneReviews 0 2 2 0 0 0 1 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Natera, Inc. 0 2 0 1 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 2 0 0 0 2
OMIM 0 10 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000087.4(CNGA1):c.1056C>A (p.Ser352Arg) rs759079269
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000283.3(PDE6B):c.1832+1G>T rs370758397
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr)
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)
NM_001142800.2(EYS):c.3243+1G>A
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_005272.4(GNAT2):c.461+24G>A rs397515384
NM_006269.2(RP1):c.788-2A>T rs1422250479
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.1781+1del rs1554607546
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052

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