Submissions for variant NM_001114753.3(ENG):c.1452C>T (p.Ser484=)

gnomAD frequency: 0.00311  dbSNP: rs115450389

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251318	SCV000302335	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382905	SCV000477317	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000858443	SCV000557847	benign	Hereditary hemorrhagic telangiectasia	2024-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000382905	SCV000603465	benign	Telangiectasia, hereditary hemorrhagic, type 1	2019-04-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001698581	SCV001916744	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392757	SCV002698201	benign	Cardiovascular phenotype	2016-06-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV001698581	SCV004010861	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ENG: BS2