ClinVar Miner

Variants with conflicting interpretations "likely benign" from Athena Diagnostics Inc and "benign" from Invitae

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 175
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) rs190036021 0.01411
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450 0.00858
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083 0.00731
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180 0.00551
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326 0.00522
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_000085.5(CLCNKB):c.1409-6T>C rs115910575 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) rs143339401 0.00298
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_001128228.3(TPRN):c.162C>A (p.Gly54=) rs562167855 0.00287
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898 0.00251
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=) rs116471335 0.00249
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00212
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_002303.6(LEPR):c.1604-16T>C rs143936245 0.00202
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) rs189463989 0.00185
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp) rs148377014 0.00150
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049 0.00081
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242 0.00059
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00040
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) rs139546241 0.00012
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro) rs752282314 0.00008
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_018109.4(MTPAP):c.486C>T (p.Arg162=) rs150489876 0.00003
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972 0.00001
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_018075.5(ANO10):c.159A>G (p.Arg53=) rs533186096
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505

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.