ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Laboratory Medicine,Yonsei University College of Medicine and "uncertain significance" from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

Minimum review status of the submission from Department of Laboratory Medicine,Yonsei University College of Medicine: Collection method of the submission from Department of Laboratory Medicine,Yonsei University College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala) rs752636698

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