ClinVar Miner

Variants with conflicting interpretations between Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and Illumina Clinical Services Laboratory,Illumina

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
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
5 6 0 0 3 0 7 10

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.

likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0
likely pathogenic 0 3 1 0
uncertain significance 1 0 2 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707

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