ClinVar Miner

Variants with conflicting interpretations "likely benign" from Eurofins NTD LLC (GA) and "uncertain significance" from Illumina Laboratory Services, Illumina

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: 49
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00206
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_018451.5(CENPJ):c.2992-17dup rs35599563
Single allele

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