Submissions for variant NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)

gnomAD frequency: 0.00063  dbSNP: rs56080682

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000608064	SCV000379826	benign	Telangiectasia, hereditary hemorrhagic, type 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756971	SCV000884976	benign	not provided	2018-01-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000608064	SCV001002626	benign	Telangiectasia, hereditary hemorrhagic, type 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608064	SCV002524586	benign	Telangiectasia, hereditary hemorrhagic, type 2	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418162	SCV002727767	benign	Cardiovascular phenotype	2019-09-11	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608064	SCV000733178	likely benign	Telangiectasia, hereditary hemorrhagic, type 2		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000608064	SCV000745685	benign	Telangiectasia, hereditary hemorrhagic, type 2	2016-04-24	no assertion criteria provided	clinical testing