ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2546+10T>C

gnomAD frequency: 0.00212  dbSNP: rs74551473
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253559 SCV000305384 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253559 SCV000525431 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000557757 SCV000626699 benign Glycogen storage disease type III 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000557757 SCV001258891 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV000557757 SCV002055059 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736678 SCV004564319 likely benign not provided 2023-10-10 criteria provided, single submitter clinical testing

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