ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)

gnomAD frequency: 0.56453  dbSNP: rs10798035
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082286 SCV000114235 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000986471 SCV000351884 benign Age related macular degeneration 1 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.
Mendelics RCV000986471 SCV001135480 benign Age related macular degeneration 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002055224 SCV002434847 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986471 SCV004179843 benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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