ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.408del (p.Glu137fs)

dbSNP: rs1554810506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV000614819 SCV000681418 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2018-01-15 criteria provided, single submitter case-control Present in all affected individuals and absent in unaffected individuals from a single family.

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