ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego and "benign" from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

Minimum review status of the submission from Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego: Collection method of the submission from Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776

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