ClinVar Miner

Variants from Academic Department of Medical Genetics, University of Cambridge with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from Academic Department of Medical Genetics, University of Cambridge: Collection method of the submission from Academic Department of Medical Genetics, University of Cambridge:
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
12 19 0 13 0 0 2 15

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.

All submitters
Academic Department of Medical Genetics, University of Cambridge pathogenic uncertain significance
likely pathogenic 13 2

Submitter to submitter summary #

Total submitters: 2
Download table as spreadsheet
Submitter 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
Ambry Genetics 0 18 0 13 0 0 2 15
Color Health, Inc 0 15 0 5 0 0 2 7

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000143.3(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522

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