ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Genetic Services Laboratory,University of Chicago

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00463
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00392
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=) rs143189394 0.00158
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00096
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00083
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00073
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00067
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00054
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00048
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00048
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00038
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00032
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00029
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00020
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_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00010
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000455.5(STK11):c.-2G>T rs774072752 0.00003
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_018062.4(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.