Submissions for variant NM_001114753.3(ENG):c.1096G>C (p.Asp366His)

gnomAD frequency: 0.00353  dbSNP: rs1800956

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150650	SCV000197991	benign	not specified	2014-09-04	criteria provided, single submitter	clinical testing	Asp366His in exon 8 of ENG: This variant is not expected to have clinical signif icance because it has been identified in 10.5% (60/572) of Asian chromosomes by the 1000 Genomes Project (dbSNP rs1800956).
GeneDx	RCV000150650	SCV000250072	benign	not specified	2015-07-07	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	RCV003891683	SCV000302331	benign	ENG-related disorder	2022-08-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000309805	SCV000477330	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000857857	SCV000557846	benign	Hereditary hemorrhagic telangiectasia	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000309805	SCV001156666	benign	Telangiectasia, hereditary hemorrhagic, type 1	2023-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453483	SCV002738545	benign	Cardiovascular phenotype	2015-09-16	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573276	SCV001798883	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573276	SCV001807361	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150650	SCV001921732	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150650	SCV001931623	benign	not specified		no assertion criteria provided	clinical testing
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285147	SCV002575029	benign	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing