ClinVar Miner

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

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
137 47 0 17 5 1 10 32

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 likely pathogenic uncertain significance likely benign benign association
pathogenic 0 3 3 0 0 0
likely pathogenic 11 0 8 0 0 0
uncertain significance 0 0 0 3 2 1
likely benign 0 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs) rs1554581504
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
Single allele

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.