ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and GeneReviews

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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 51 30 9 3 0 22 64

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 uncertain significance benign
pathogenic 30 1 1
likely pathogenic 3 0 0
uncertain significance 6 0 0
likely benign 7 3 6
benign 7 0 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.11778G>A rs199476112
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NR_001566.1(TERC):n.228G>A rs141686314

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.