ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) (rs77341011)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000197995 SCV000602395 benign not specified 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000197995 SCV000249620 benign not specified 2015-07-10 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000457910 SCV000745686 benign Hereditary hemorrhagic telangiectasia type 2 2017-08-02 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305821 SCV000379828 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457910 SCV000562556 benign Hereditary hemorrhagic telangiectasia type 2 2017-11-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000197995 SCV000301537 benign not specified criteria provided, single submitter clinical testing

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