ClinVar Miner

Variants with conflicting interpretations between Michigan Medical Genetics Laboratories,University of Michigan and Mendelics

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 41 0 34 4 0 0 38

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
uncertain significance 0 1 1
likely benign 2 0 3
benign 0 31 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00293
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00236
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00233
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00207
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00191
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00156
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00140
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00127
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_007294.4(BRCA1):c.591C>T (p.Cys197_Ser198=) rs1799965 0.00117
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00061
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00051
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00022
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00010
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_000059.4(BRCA2):c.7618-19G>T rs371417084 0.00001
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329

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