ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "likely benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 29
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377

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