ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.520A>C (p.Met174Leu)

dbSNP: rs111589746
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000120881 SCV000340836 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001068751 SCV000371833 benign Exostoses, multiple, type 2 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001068751 SCV001233882 likely benign Exostoses, multiple, type 2 2023-12-27 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237723 SCV002009174 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925188 SCV004742471 likely benign EXT2-related disorder 2023-06-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120881 SCV000085049 not provided not specified 2013-09-19 no assertion provided reference population

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