ClinVar Miner

Variants with conflicting interpretations between Michigan Medical Genetics Laboratories,University of Michigan and Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum review status of the submission from Michigan Medical Genetics Laboratories,University of Michigan: Collection method of the submission from Michigan Medical Genetics Laboratories,University of Michigan:
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
0 81 0 31 4 0 0 35

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.

likely benign benign
uncertain significance 3 1
likely benign 0 3
benign 28 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.00953
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_007294.4(BRCA1):c.1971A>G (p.Gln657_Met658=) rs28897679 0.00707
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00640
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00350
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00331
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00249
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00236
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.631+43G>T rs276174869 0.00137
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00127
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00070
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00051
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00016
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00010
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00003
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_000059.4(BRCA2):c.67+4T>C rs373546450 0.00001
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.81-14C>T rs80358006

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