ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1529G>A (p.Arg510His)

gnomAD frequency: 0.00006  dbSNP: rs45476300
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380934 SCV000461963 uncertain significance Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291215 SCV000461964 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095132 SCV000484191 likely benign Age related macular degeneration 14 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000346703 SCV000484192 likely benign Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002058588 SCV002326426 likely benign not provided 2023-09-30 criteria provided, single submitter clinical testing

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