Submissions for variant NM_000063.6(C2):c.2046A>G (p.Ala682=)

gnomAD frequency: 0.00154  dbSNP: rs45507391

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000260084	SCV000461977	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269678	SCV000461978	likely benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355015	SCV000484201	likely benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095049	SCV000484202	benign	Age related macular degeneration 14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511745	SCV001719041	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504172	SCV002805512	likely benign	Complement component 2 deficiency; Age related macular degeneration 14	2021-10-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001511745	SCV004810969	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	C2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004555555	SCV004725527	benign	C2-related disorder	2019-06-12	no assertion criteria provided	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).