ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.14C>T (p.Thr5Met) (rs35400405)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155541 SCV000205240 benign not specified 2014-08-22 criteria provided, single submitter clinical testing Thr5Met in exon 1 of ENG: This variant is not expected to have clinical signific ance because it has been identified in 10% (445/4390) of African American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs35400405).
GeneDx RCV000155541 SCV000250075 benign not specified 2014-09-18 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.
PreventionGenetics,PreventionGenetics RCV000155541 SCV000302336 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155541 SCV000343357 benign not specified 2016-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284602 SCV000477364 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001083206 SCV000557852 benign Hereditary hemorrhagic telangiectasia 2020-11-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000284602 SCV000603446 benign Hereditary hemorrhagic telangiectasia type 1 2020-08-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000284602 SCV000734645 benign Hereditary hemorrhagic telangiectasia type 1 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573847 SCV001800288 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000155541 SCV001807220 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000155541 SCV001917392 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000155541 SCV001930406 benign not specified no assertion criteria provided clinical testing

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