ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter)

dbSNP: rs1197761705
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics, Medical University of Vienna RCV000513296 SCV000346038 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 no assertion criteria provided clinical testing

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