ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Clinical Genetics Karolinska University Hospital,Karolinska University Hospital

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
174 13 0 0 0 0 13 13

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 pathogenic
uncertain significance 5 6
likely benign 0 2

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_000059.4(BRCA2):c.9699_9702del rs80359775
NM_000061.3(BTK):c.1442G>C rs1057519825
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000492.4(CFTR):c.3297C>A rs747754623
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740

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