Submissions for variant NM_001114753.3(ENG):c.1374A>G (p.Pro458=)

gnomAD frequency: 0.00879  dbSNP: rs34828244

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196025	SCV000250073	benign	not specified	2015-04-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755255	SCV000262378	benign	Hereditary hemorrhagic telangiectasia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000196025	SCV000302334	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000196025	SCV000340690	benign	not specified	2016-03-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206022	SCV000477325	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000206022	SCV000603448	benign	Telangiectasia, hereditary hemorrhagic, type 1	2023-11-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000196025	SCV001774482	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795317	SCV002498048	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ENG: BP4, BP7, BS1, BS2
Ambry Genetics	RCV002381666	SCV002696359	benign	Cardiovascular phenotype	2015-06-08	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	RCV001795317	SCV005227518	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000196025	SCV001809594	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000196025	SCV001917677	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795317	SCV002036117	likely benign	not provided		no assertion criteria provided	clinical testing