ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp)

gnomAD frequency: 0.00984  dbSNP: rs74136012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893122 SCV001037038 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098021 SCV001254358 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.
Genome-Nilou Lab RCV001098021 SCV004179840 benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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