ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" 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: 117
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.34995
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.34993
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.34908
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34424
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.34292
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.24226
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.23475
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22326
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17056
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16232
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.16113
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16006
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15862
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.10839
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07130
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.06909
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04910
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04809
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04106
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03913
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03503
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03270
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03220
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03076
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02557
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.02352
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.02350
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.02343
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01622
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01538
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01129
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01026
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00845
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00825
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00647
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00647
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00577
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00430
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00401
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00395
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00363
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00278
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00239
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00198
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00185
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00175
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00150
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00127
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00077
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000051.4(ATM):c.8592C>T (p.Tyr2864_Ile2865=) rs56025670 0.00051
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00048
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00029
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00016
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722

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