ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Ambry Genetics and "likely pathogenic" from GeneDx

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 199
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp) rs760978512 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser) rs1370913867 0.00002
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NC_000011.10:g.47342825C>T rs727503202 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys) rs771771163 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser) rs730880960 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.68527+1G>C rs766984722 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val) rs1085307922 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002880.4(RAF1):c.791A>T (p.His264Leu) rs1057517887 0.00001
NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter) rs370785080 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) rs397515399 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter) rs771831816 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000088.4(COL1A1):c.1056+2T>C
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) rs794728559
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1265A>G (p.Tyr422Cys) rs1892816286
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn) rs1595084560
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) rs730880857
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.5734C>T (p.Arg1912Cys)
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser) rs730881079
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) rs794729145
NM_001148.6(ANK2):c.11859+2T>G
NM_001267550.2(TTN):c.107818C>T (p.Gln35940Ter)
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.53287+1G>T rs1064794266
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.68527+1G>T
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001367624.2(ZNF469):c.10332dup (p.Arg3445fs) rs764470052
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) rs730880965
NM_002834.5(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs)
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys) rs397516863
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly) rs886041923
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) rs560020203
Single allele

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