ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "uncertain significance" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911

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