ClinVar Miner

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

gnomAD frequency: 0.00154  dbSNP: rs45507391
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Total submissions: 8
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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.
Invitae 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
PreventionGenetics, part of Exact Sciences RCV004555555 SCV004725527 benign C2-related disorder 2019-06-12 criteria provided, single submitter 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).
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

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