ClinVar Miner

Variants with conflicting interpretations between Clinical Genetics, Academic Medical Center and Mendelics

Minimum review status of the submission from Clinical Genetics, Academic Medical Center: Collection method of the submission from Clinical Genetics, Academic Medical Center:
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
372 19 0 4 3 0 1 8

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.

uncertain significance benign
likely pathogenic 1 0
uncertain significance 0 1
likely benign 1 4
benign 1 0

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606

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