Variants with conflicting interpretations "likely benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "benign" from any submitter

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:		Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 135

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HGVS	dbSNP	gnomAD frequency
NM_003476.5(CSRP3):c.150G>A (p.Ala50=)	rs7124801	0.03207
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	rs17604693	0.02655
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)	rs116605521	0.02188
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)	rs75909145	0.01900
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)	rs56270948	0.01676
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)	rs34956633	0.01509
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	rs11570076	0.01409
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)	rs80325569	0.01244
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)	rs61733587	0.01098
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	rs78652302	0.00908
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	rs3729823	0.00861
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)	rs143043662	0.00760
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)	rs72468681	0.00714
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)	rs115744476	0.00640
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)	rs558770240	0.00630
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)	rs11924644	0.00629
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)	rs16998350	0.00594
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)	rs5746220	0.00571
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	rs189569984	0.00554
NM_017636.4(TRPM4):c.618G>A (p.Ser206=)	rs142788545	0.00422
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	rs142027794	0.00415
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)	rs201012766	0.00405
NM_002294.3(LAMP2):c.1093+2514G>A	rs144140265	0.00404
NM_000384.3(APOB):c.607A>G (p.Ile203Val)	rs72653059	0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	rs146882581	0.00396
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)	rs28730751	0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)	rs2234916	0.00387
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)	rs34580776	0.00376
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)	rs35131433	0.00374
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)	rs56355369	0.00373
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	rs201370621	0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)	rs116908219	0.00333
NM_007078.3(LDB3):c.147G>A (p.Val49=)	rs45591834	0.00312
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	rs10482721	0.00297
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)	rs79229040	0.00285
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)	rs72468638	0.00279
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)	rs45550635	0.00271
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	rs150821281	0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)	rs147356378	0.00252
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	rs11570112	0.00247
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)	rs61756328	0.00239
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)	rs3729799	0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	rs41261344	0.00222
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)	rs34935550	0.00217
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)	rs137934837	0.00216
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)	rs143184877	0.00208
NM_033337.3(CAV3):c.-1G>A	rs74377241	0.00201
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)	rs572545726	0.00198
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)	rs145169006	0.00193
NM_133379.5(TTN):c.14754T>G (p.Pro4918=)	rs72648908	0.00190
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)	rs11570052	0.00187
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)	rs200509948	0.00184
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)	rs45488304	0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	rs35736435	0.00177
NM_053025.4(MYLK):c.399G>T (p.Gln133His)	rs140148380	0.00167
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	rs116840776	0.00164
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)	rs150911078	0.00158
NM_004415.4(DSP):c.1920C>T (p.Ile640=)	rs74806300	0.00156
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)	rs142992009	0.00153
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)	rs79068489	0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	rs142401936	0.00137
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)	rs61729664	0.00128
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)	rs61735272	0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	rs72466590	0.00126
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	rs11570082	0.00120
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)	rs141541387	0.00119
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	rs187705120	0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)	rs186699871	0.00106
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	rs139139859	0.00096
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)	rs138842207	0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)	rs363831	0.00089
NM_000384.3(APOB):c.4163G>A (p.Arg1388His)	rs13306187	0.00088
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)	rs144338227	0.00083
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)	rs151021935	0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)	rs200596619	0.00082
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	rs121912705	0.00077
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)	rs150817714	0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)	rs138753870	0.00076
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)	rs150199251	0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	rs55725279	0.00071
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)	rs143749154	0.00068
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)	rs201340369	0.00066
NM_004006.3(DMD):c.1028G>A (p.Arg343His)	rs61733589	0.00062
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)	rs148185335	0.00060
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)	rs3729712	0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	rs148176616	0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)	rs554853074	0.00048
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)	rs375626512	0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)	rs531877510	0.00044
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)	rs141069645	0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val)	rs371648742	0.00042
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	rs146024732	0.00039
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)	rs145611185	0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	rs147822019	0.00036
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	rs147415451	0.00033
NM_000384.3(APOB):c.2853G>A (p.Glu951=)	rs151193347	0.00031
NM_014000.3(VCL):c.366G>A (p.Leu122=)	rs199562976	0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)	rs201787206	0.00026
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)	rs148146011	0.00026
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)	rs199986217	0.00021
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)	rs199588981	0.00018
NM_002294.3(LAMP2):c.591G>A (p.Val197=)	rs201030806	0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)	rs397516054	0.00013
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)	rs375752426	0.00011
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=)	rs377520770	0.00010
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)	rs201919981	0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=)	rs45613039	0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)	rs149846886	0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=)	rs377742289	0.00009
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)	rs185569619	0.00009
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)	rs377579620	0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)	rs765895405	0.00006
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)	rs587781126	0.00003
NM_000257.4(MYH7):c.2862C>T (p.Ile954=)	rs982198020	0.00001
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	rs41315493
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT	rs397516362
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])	rs139512154
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)	rs61742472
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)	rs397516862
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)	rs139438727
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)	rs730880971
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)	rs140704891
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1])	rs113100797
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])	rs397517815
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	rs35574083

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