ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Athena Diagnostics Inc and "pathogenic" from CeGaT Center for Human Genetics Tuebingen

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: 28
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_130837.3(OPA1):c.1035+5G>A rs754576717

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