ClinVar Miner

Variants with conflicting interpretations between Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and Ambry Genetics

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
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
109 10 0 2 5 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.

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

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237

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