ClinVar Miner

Variants from Dr. med. U. Finckh, Human Genetics, Eurofins MVZ with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Dr. med. U. Finckh, Human Genetics, Eurofins MVZ: Collection method of the submission from Dr. med. U. Finckh, Human Genetics, Eurofins MVZ:
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
164 19 0 5 2 0 3 9

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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 1 0 0
likely pathogenic 4 0 2 0
uncertain significance 1 0 0 1
likely benign 0 0 1 0

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter 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
Invitae 0 6 0 1 2 0 1 4
3billion 0 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1 0 0 1
Myriad Genetics, Inc. 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)

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