ClinVar Miner

Variants with conflicting interpretations between Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and GeneReviews

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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
18 18 12 8 0 0 3 23

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.

pathogenic 12
likely pathogenic 8
uncertain significance 3

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_194318.4(B3GLCT):c.660+1G>A rs80338851

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