ClinVar Miner

Variants from Institute of Human Genetics,University of Wuerzburg with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics,University of Wuerzburg: Collection method of the submission from Institute of Human Genetics,University of Wuerzburg:
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
141 12 0 4 7 1 4 16

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
Institute of Human Genetics,University of Wuerzburg pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 0 3 0 0 0 0
likely pathogenic 1 0 4 1 0 1
uncertain significance 0 0 0 5 2 0

Submitter to submitter summary #

Total submitters: 9
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
Invitae 0 2 0 2 6 0 4 12
Counsyl 0 2 0 1 0 0 1 2
Athena Diagnostics Inc 0 1 0 0 1 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
PharmGKB 0 0 0 0 0 1 0 1
Color 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000251.2(MSH2):c.1316_1318delCTC rs587779082
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
NM_000478.6(ALPL):c.1112_1113CT[1] (p.Leu372fs) rs1553414600
NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.396C>T (p.Phe132=)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001283009.1(RTEL1):c.3423G>A (p.Pro1141=) rs41306796
NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_022068.3(PIEZO2):c.8196A>G (p.Lys2732=) rs149395405
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_198056.2(SCN5A):c.4747C>T (p.Arg1583Cys) rs45514691
NM_213599.2(ANO5):c.1362G>A (p.Thr454=)
NM_213599.2(ANO5):c.2030-3_2030-2dup

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