ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.*45del

dbSNP: rs761647766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369205 SCV000379835 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755783 SCV000883355 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2020-03-09 criteria provided, single submitter clinical testing

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