ClinVar Miner

Variants from Care4Rare,CHEO with conflicting interpretations

Location: Canada — Primary collection method: research
Minimum review status of the submission from Care4Rare,CHEO: Collection method of the submission from Care4Rare,CHEO:
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
3 0 0 0 0 0 9 9

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
Care4Rare,CHEO pathogenic likely pathogenic
uncertain significance 9 1

Submitter to submitter summary #

Total submitters: 2
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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
OMIM 0 0 0 0 0 0 9 9
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 9
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HGVS dbSNP
NM_004315.5(ASAH1):c.504A>C (p.Lys168Asn) rs200455852
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_017646.5(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.5(TRIT1):c.1256A>C (p.His419Pro) rs566435653
NM_017646.5(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.5(TRIT1):c.848T>G (p.Ile283Ser) rs199622789
NM_017646.5(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019
NM_153681.2(PIGP):c.456delA (p.Glu153Asnfs) rs778481061
NM_153681.2(PIGP):c.74T>C (p.Met25Thr) rs768633670

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