ClinVar Miner

Variants with conflicting interpretations between Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego and CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

Minimum review status of the submission from Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego: Collection method of the submission from Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego:
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
139 27 0 14 7 0 0 21

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
likely benign 6 0 9
benign 1 5 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776

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