ClinVar Miner

Variants from SNPedia with conflicting interpretations

Location: United States — Primary collection method: not provided
Minimum review status of the submission from SNPedia: Collection method of the submission from SNPedia:
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
42 51 0 20 0 1 2 21

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
SNPedia pathogenic likely pathogenic uncertain significance risk factor
pathogenic 0 19 2 1
likely pathogenic 1 0 0 0

Submitter to submitter summary #

Total submitters: 13
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
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 9 0 0 0 9
Counsyl 0 20 0 6 0 0 1 7
GeneDx 0 24 0 6 0 0 0 6
Ambry Genetics 0 14 0 3 0 0 0 3
Invitae 0 29 0 3 0 0 0 3
OMIM 0 24 0 0 0 1 0 1
LDLR-LOVD, British Heart Foundation 0 8 0 1 0 0 0 1
PALB2 database 0 2 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 5 0 0 0 0 1 1
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 1 0 0 0 1
Color 0 9 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 4 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000048.3(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.3(ASL):c.718+5G>A rs869312990
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_017890.4(VPS13B):c.10456_10457delAG (p.Leu3487Profs) rs180177371
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) rs180177374
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) rs180177357
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) rs180177363
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) rs180177364
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_024675.3(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3426_3429delACTT (p.Leu1142Phefs) rs587776424
NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs) rs587776428
NM_024675.3(PALB2):c.48G>A (p.Lys16=) rs587776405
PALB2:c.2515-1G>T rs587776417

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