ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center and "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center: Collection method of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_004006.3(DMD):c.3922-3C>T rs786205603

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