ClinVar Miner

Variants from UW Hindbrain Malformation Research Program,University of Washington with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from UW Hindbrain Malformation Research Program,University of Washington: Collection method of the submission from UW Hindbrain Malformation Research Program,University of Washington:
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
217 56 3 15 0 0 16 33

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
UW Hindbrain Malformation Research Program,University of Washington pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 14 11 1 1
likely pathogenic 1 0 3 1 1

Submitter to submitter summary #

Total submitters: 15
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
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 7 0 0 0 7
Invitae 0 9 0 0 0 0 6 6
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 4 5
GeneReviews 0 0 3 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 2 3
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 2 2
Natera, Inc. 0 1 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 6 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949

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