ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.*272G>T

gnomAD frequency: 0.31955  dbSNP: rs1804808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407316 SCV000346095 benign Glycogen storage disease type III 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.
GeneDx RCV001689959 SCV001913330 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000407316 SCV004050103 benign Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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