ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) (rs139008591)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245058 SCV000301538 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000861645 SCV001002018 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000617 SCV001157614 benign Telangiectasia, hereditary hemorrhagic, type 2 2019-02-01 criteria provided, single submitter clinical testing

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