ClinVar Miner

Variants from Schule lab,Hertie Institute for Clinical Brain Research with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Schule lab,Hertie Institute for Clinical Brain Research: Collection method of the submission from Schule lab,Hertie Institute for Clinical Brain Research:
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
6 2 0 1 2 0 2 5

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
Schule lab,Hertie Institute for Clinical Brain Research likely pathogenic uncertain significance
pathogenic 1 2
likely benign 0 2

Submitter to submitter summary #

Total submitters: 5
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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
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
GeneDx 0 1 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP
NM_002222.5(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357
NM_002222.5(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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