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

gnomAD frequency: 0.04608  dbSNP: rs35400405

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000155541	SCV000302336	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000155541	SCV000343357	benign	not specified	2016-07-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284602	SCV000477364	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001083206	SCV000557852	benign	Hereditary hemorrhagic telangiectasia	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000284602	SCV000603446	benign	Telangiectasia, hereditary hemorrhagic, type 1	2023-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390352	SCV002702298	benign	Cardiovascular phenotype	2015-09-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000284602	SCV000734645	benign	Telangiectasia, hereditary hemorrhagic, 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