ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.747G>A (p.Val249=) (rs1058563)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195590 SCV000249622 benign not specified 2014-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000195590 SCV000268785 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val249Val in exon 6 of ACVRL1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 13.1% (576/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1058563).
PreventionGenetics,PreventionGenetics RCV000195590 SCV000301539 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357283 SCV000379832 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463409 SCV000562554 benign Hereditary hemorrhagic telangiectasia type 2 2017-06-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000463409 SCV000602397 benign Hereditary hemorrhagic telangiectasia type 2 2019-02-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000463409 SCV000743469 benign Hereditary hemorrhagic telangiectasia type 2 2014-10-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000463409 SCV000745687 benign Hereditary hemorrhagic telangiectasia type 2 2016-04-06 no assertion criteria provided clinical testing

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