ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser)

gnomAD frequency: 0.13698  dbSNP: rs3753494
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241565 SCV000305390 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363737 SCV000346080 benign Glycogen storage disease type III 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.
GeneDx RCV000241565 SCV000517713 benign not specified 2015-12-02 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.
Invitae RCV000363737 SCV001719482 benign Glycogen storage disease type III 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000363737 SCV002055064 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675334 SCV000801000 benign not provided 2015-12-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000363737 SCV001456539 benign Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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