ClinVar Miner

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

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, University of Goettingen: Collection method of the submission from Institute of Human Genetics, University of Goettingen:
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
577 33 0 5 5 0 11 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.

All submitters
Institute of Human Genetics, University of Goettingen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 4 0 8 0 0
uncertain significance 2 1 0 2 1
likely benign 0 0 2 0 0

Submitter to submitter summary #

Total submitters: 13
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 17 0 2 3 0 7 12
Natera, Inc. 0 0 0 1 0 0 1 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
GeneDx 0 1 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 3 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 0 0 1 1
Autoinflammatory diseases unit, CHU de Montpellier 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 0 0 0 1 1
3billion 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) rs1016959427 0.00001
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141 0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) rs753708048 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790

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