ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)

gnomAD frequency: 0.00309  dbSNP: rs114270813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001098220 SCV001254572 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002069658 SCV002476669 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001098220 SCV004179889 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906188 SCV004725594 benign HMCN1-related disorder 2019-08-07 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).

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