ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.120C>T (p.Gly40=) (rs41522944)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000755522 SCV000283523 benign Hereditary hemorrhagic telangiectasia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251027 SCV000302332 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231697 SCV000477361 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000251027 SCV000512934 benign not specified 2015-12-02 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000231697 SCV000603474 benign Hereditary hemorrhagic telangiectasia type 1 2018-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000251027 SCV000711318 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly40Gly in exon 2 of ENG: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.5% (44/8600) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs41522944).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000231697 SCV000734644 likely benign Hereditary hemorrhagic telangiectasia type 1 no assertion criteria provided clinical testing

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