ClinVar Miner

Variants with conflicting interpretations "benign" from Michigan Medical Genetics Laboratories, University of Michigan and "likely benign" from 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:
ClinVar version:
Total variants with conflicting interpretations: 31
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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.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00038
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00038
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00024
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329

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