Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "benign" from any submitter

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:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 141

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A	rs6447	0.01770
UGT1A1*6	rs4148323	0.00891
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	rs121908147	0.00835
NM_000085.5(CLCNKB):c.1297+5G>T	rs35351345	0.00544
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)	rs116012798	0.00451
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)	rs114647348	0.00354
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	rs145910245	0.00349
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg)	rs199836125	0.00323
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)	rs145403829	0.00314
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)	rs144455066	0.00310
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	rs137933390	0.00282
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	rs35238405	0.00270
NM_000218.3(KCNQ1):c.-5T>C	rs532941548	0.00267
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)	rs72552027	0.00249
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)	rs61752766	0.00248
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	rs137852776	0.00242
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	rs74315416	0.00220
NM_000383.4(AIRE):c.1566+8C>T	rs72650680	0.00206
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	rs140626538	0.00205
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)	rs138762270	0.00197
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	rs140017632	0.00191
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	rs55999987	0.00184
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)	rs61744480	0.00177
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)	rs72773422	0.00170
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	rs58173258	0.00169
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	rs193922855	0.00163
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	rs140679502	0.00150
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)	rs201386977	0.00131
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)	rs139037316	0.00124
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)	rs202162520	0.00121
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)	rs147840220	0.00103
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)	rs202171627	0.00101
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)	rs139664153	0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	rs56035053	0.00098
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00089
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	rs41308297	0.00088
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)	rs141563188	0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)	rs188772875	0.00086
NM_001927.4(DES):c.785A>T (p.Glu262Val)	rs147327878	0.00083
NM_002335.4(LRP5):c.1413-7T>A	rs141889567	0.00077
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)	rs149496604	0.00075
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)	rs34521483	0.00070
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)	rs181469519	0.00068
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)	rs139769668	0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	rs201312636	0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	rs35698242	0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)	rs200450022	0.00063
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)	rs151051452	0.00062
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)	rs200816323	0.00061
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)	rs147641617	0.00059
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)	rs149481227	0.00053
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)	rs113107733	0.00051
NM_017739.4(POMGNT1):c.421-7C>A	rs189274856	0.00049
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)	rs200955930	0.00044
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)	rs201072069	0.00041
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)	rs201922441	0.00040
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)	rs201123438	0.00037
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)	rs202158738	0.00032
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	rs191293931	0.00026
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)	rs201583659	0.00025
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)	rs200193877	0.00024
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met)	rs201214320	0.00023
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)	rs761368099	0.00022
NM_001927.4(DES):c.736-8C>A	rs140375681	0.00021
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	rs147187700	0.00019
NM_000218.3(KCNQ1):c.386+16216G>A	rs201090517	0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)	rs200786705	0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	rs138398778	0.00017
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile)	rs779475596	0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)	rs375968367	0.00017
NM_000026.4(ADSL):c.357+6C>T	rs181628906	0.00015
NM_000162.5(GCK):c.364-13G>A	rs372405219	0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)	rs139200312	0.00015
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)	rs200944827	0.00013
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)	rs749401561	0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)	rs754836509	0.00013
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)	rs200815347	0.00012
NM_001927.4(DES):c.665G>A (p.Arg222His)	rs367961979	0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)	rs200810800	0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)	rs563858170	0.00011
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)	rs143717863	0.00011
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	rs34393781	0.00010
NM_014141.6(CNTNAP2):c.755-5C>T	rs369675346	0.00010
NM_001267550.2(TTN):c.57544+7dup	rs750881309	0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)	rs375875022	0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	rs371869943	0.00009
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)	rs200476500	0.00008
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)	rs369127299	0.00008
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)	rs373226693	0.00007
NM_000335.5(SCN5A):c.393-5C>A	rs368678204	0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)	rs146936870	0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)	rs146395198	0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)	rs143557803	0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	rs370814108	0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)	rs201138253	0.00006
NM_001851.6(COL9A1):c.166+5G>A	rs544432669	0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)	rs754033201	0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)	rs375290498	0.00005
NM_000051.4(ATM):c.3154-5C>T	rs55719759	0.00004
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)	rs545556079	0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)	rs761960627	0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)	rs536675517	0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)	rs201127191	0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)	rs369542231	0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)	rs146650383	0.00004
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)	rs61751445	0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	rs200786329	0.00003
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)	rs375131360	0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)	rs782420127	0.00002
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)	rs146584956	0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)	rs774463808	0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)	rs753844954	0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)	rs753511073	0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)	rs199657817	0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)	rs368624188	0.00002
NM_000352.6(ABCC8):c.3989-10C>T	rs373737642	0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val)	rs745409162	0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)	rs771402351	0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)	rs202110208	0.00001
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	rs150396398
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)	rs200972189
NM_001267550.2(TTN):c.31762+5_31762+7del	rs397517538
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	rs886042743
NM_001379110.1(SLC9A6):c.5_8delinsTT	rs797044655
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)	rs769735492
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	rs2307437
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)	rs1597686012
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)	rs148286091
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)	rs144919978
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser)	rs1030615093
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)	rs41311335
Single allele

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