Submissions for variant NM_001114753.3(ENG):c.1712G>A (p.Arg571His)

gnomAD frequency: 0.00007  dbSNP: rs138799379

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081138	SCV000557859	likely benign	Hereditary hemorrhagic telangiectasia	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000834993	SCV000976766	likely benign	not provided	2018-04-17	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.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001262059	SCV001439439	likely benign	Telangiectasia, hereditary hemorrhagic, type 1	2018-01-01	criteria provided, single submitter	research	BS1 +BP2+BP6
Genetic Services Laboratory, University of Chicago	RCV001821326	SCV002065662	likely benign	not specified	2019-04-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402331	SCV002712294	likely benign	Cardiovascular phenotype	2017-09-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.