ClinVar Miner

Variants from Hehr Laboratory, Center for Human Genetics Regensburg with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Hehr Laboratory, Center for Human Genetics Regensburg: Collection method of the submission from Hehr Laboratory, Center for Human Genetics Regensburg:
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
18 1 0 1 1 0 1 3

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
Hehr Laboratory, Center for Human Genetics Regensburg pathogenic uncertain significance likely benign
likely pathogenic 1 1 0
uncertain significance 0 0 1

Submitter to submitter summary #

Total submitters: 4
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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
Revvity Omics, Revvity 0 0 0 0 0 0 1 1
Invitae 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721

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