ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1977G>A (p.Ter659=)

dbSNP: rs1337723089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285260 SCV001471663 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2019-08-16 criteria provided, single submitter clinical testing

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