ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "likely benign" from Mayo Clinic Laboratories, Mayo Clinic

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:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_018109.4(MTPAP):c.158-9C>T rs139217290 0.00503
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002

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