Submissions for variant NM_001114753.3(ENG):c.1794T>C (p.Gly598=)

gnomAD frequency: 0.01435  dbSNP: rs41358947

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196861	SCV000250074	benign	not specified	2014-12-03	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, Mass General Brigham Personalized Medicine	RCV000196861	SCV000269079	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gly598Gly in exon 14A of ENG: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4.0% (178/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs41358947).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079981	SCV000283533	benign	Hereditary hemorrhagic telangiectasia	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228000	SCV000477313	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000228000	SCV000603467	benign	Telangiectasia, hereditary hemorrhagic, type 1	2018-10-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000196861	SCV001774549	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408862	SCV002716238	benign	Cardiovascular phenotype	2017-02-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001706173	SCV005227515	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000196861	SCV001797581	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000196861	SCV001808961	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000196861	SCV001926058	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706173	SCV001929973	likely benign	not provided		no assertion criteria provided	clinical testing