ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
298 38 0 8 2 4 8 20

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 risk factor
pathogenic 0 5 3 1
likely pathogenic 3 0 0 0
uncertain significance 2 2 0 0
likely benign 2 0 0 0
benign 1 0 2 1
other 1 0 1 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
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.