ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 63
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HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_213599.3(ANO5):c.295-8dup rs778435515

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