ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Broad Institute Rare Disease Group, Broad Institute

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
43 13 0 5 2 0 0 7

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

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880

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