ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario and "benign" from any submitter

Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 69
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_002878.4(RAD51D):c.346-10C>T rs779972784 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.4357+7A>G rs431825407
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_024675.4(PALB2):c.3202-8G>T rs367979106

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