ClinVar Miner

Variants with conflicting interpretations between Génétique des Maladies du Développement, Hospices Civils de Lyon and Ambry Genetics

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
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
0 13 0 4 0 0 3 7

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.

likely pathogenic uncertain significance
pathogenic 4 1
likely pathogenic 0 2

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887

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