ClinVar Miner

Variants from Inserm U 954, Faculté de Médecine de Nancy with conflicting interpretations

Location: France — Primary collection method: not provided
Minimum review status of the submission from Inserm U 954, Faculté de Médecine de Nancy: Collection method of the submission from Inserm U 954, Faculté de Médecine de Nancy:
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
51 7 8 1 0 0 4 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
Inserm U 954, Faculté de Médecine de Nancy pathogenic likely pathogenic uncertain significance likely benign
likely pathogenic 1 6 4 0
likely benign 0 0 0 2

Submitter to submitter summary #

Total submitters: 3
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
ClinGen PAH Variant Curation Expert Panel, 0 0 4 1 0 0 4 9
Counsyl 0 1 4 0 0 0 0 4
Invitae 0 2 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000277.2(PAH):c.1199+70G>A rs281865457
NM_000277.2(PAH):c.169-42T>A rs281865459
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.2(PAH):c.442-2A>C rs281865448
NM_000277.2(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692

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