ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)

gnomAD frequency: 0.00550  dbSNP: rs41317471
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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) RCV000082285 SCV000114234 benign not specified 2013-09-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285435 SCV000351836 likely benign Age related macular degeneration 1 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.
Invitae RCV000086987 SCV001033595 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000285435 SCV004179771 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086987 SCV000119240 not provided not provided no assertion provided not provided

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