ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)

gnomAD frequency: 0.00100  dbSNP: rs140049629
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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 RCV000342515 SCV000351900 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059383 SCV002444085 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002059383 SCV004123987 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing HMCN1: BP4, BP7
Genome-Nilou Lab RCV000342515 SCV004179860 benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002059383 SCV005260453 likely benign not provided criteria provided, single submitter not provided

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