ClinVar Miner

Variants from Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research with conflicting interpretations

Location: Australia — Primary collection method: research
Minimum review status of the submission from Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research: Collection method of the submission from Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical 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
208 19 0 6 0 1 3 10

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 of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research pathogenic likely pathogenic benign protective
pathogenic 0 1 0 1
likely pathogenic 3 0 0 0
uncertain significance 1 2 0 0
likely benign 0 0 2 0

Submitter to submitter summary #

Total submitters: 7
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 1 3
Gharavi Laboratory,Columbia University 0 2 0 2 0 0 1 3
Athena Diagnostics Inc 0 6 0 2 0 0 0 2
Invitae 0 4 0 2 0 0 0 2
Blueprint Genetics 0 4 0 2 0 0 0 2
OMIM 0 0 0 0 0 1 0 1
GeneDx 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838

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