ClinVar Miner

Variants from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute with conflicting interpretations

Location: Australia — Primary collection method: clinical testing
Minimum review status of the submission from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services,Murdoch Childrens 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
41 8 1 11 0 0 1 13

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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute pathogenic likely pathogenic uncertain significance
pathogenic 1 6 0
likely pathogenic 5 0 1

Submitter to submitter summary #

Total submitters: 11
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
Counsyl 0 1 0 2 0 0 1 3
Invitae 0 5 0 2 0 0 0 2
GeneDx 0 7 0 1 0 0 0 1
GeneReviews 0 2 1 0 0 0 0 1
Fulgent Genetics 0 2 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000790.3(DDC):c.1073G>A (p.Arg358His) rs771317809
NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro) rs771487311
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_004092.3(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_025243.3(SLC19A3):c.337T>C (p.Tyr113His) rs145999922
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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