ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.114G>T (p.Gly38=)

gnomAD frequency: 0.00337  dbSNP: rs115169621
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153364 SCV000202848 benign not specified 2014-01-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391836 SCV000351778 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 RCV000954222 SCV001100841 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954222 SCV004123970 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing HMCN1: BP4, BP7
Genome-Nilou Lab RCV000391836 SCV004179716 benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000954222 SCV001978827 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954222 SCV001980601 likely benign not provided no assertion criteria provided clinical testing

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