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 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
154 85 4 34 0 0 21 55

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
pathogenic 3 33 16 0
likely pathogenic 1 1 5 1

Submitter to submitter summary #

Total submitters: 19
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
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 12 0 0 0 13
GeneDx 0 33 0 10 0 0 1 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 15 0 1 0 0 9 10
Illumina Clinical Services Laboratory,Illumina 0 5 0 4 0 0 4 8
Invitae 0 34 0 2 0 0 3 5
Counsyl 0 1 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 13 0 1 0 0 2 3
GeneReviews 0 2 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 2 3
Ambry Genetics 0 2 0 2 0 0 0 2
Fulgent Genetics 0 14 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 2 0 0 0 2
OMIM 0 62 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 1 0 0 0 1
PreventionGenetics 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 0 0 1 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs) rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3774dupT (p.Glu1259Terfs) rs386833757
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) rs386833760
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001082538.2(TCTN1):c.342-2A>G rs730882221
NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001173990.2(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.2(TMEM216):c.398T>G (p.Leu133Ter) rs755459875
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_006346.3(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_015681.3(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_017777.3(MKS1):c.1115_1117delCCT (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1208C>T (p.Ser403Leu) rs773684291
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
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_023073.3(CPLANE1):c.7988_7989delGA (p.Gly2663Alafs) rs730882217
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024809.4(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_198525.2(KIF7):c.2981A>G (p.Gln994Arg) rs138410949

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.