ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.314-35A>G (rs2071219)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249741 SCV000301536 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999924 SCV000602393 benign Telangiectasia, hereditary hemorrhagic, type 2 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV000999924 SCV001716885 benign Telangiectasia, hereditary hemorrhagic, type 2 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001538910 SCV001756626 benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16179574, 16776339, 25847705)
Nilou-Genome Lab RCV000999924 SCV001768978 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-07-14 criteria provided, single submitter clinical testing

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