ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "pathogenic" from Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000518.5(HBB):c.-82C>T rs34500389

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