ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "likely benign" from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 84
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.68-17A>G rs1060504621 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234

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