ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.894C>T (p.Leu298=) (rs2230306)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179774 SCV000232080 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179774 SCV000305407 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327447 SCV000346062 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 RCV000179774 SCV000517496 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.
Phosphorus, Inc. RCV000327447 SCV000679816 benign Glycogen storage disease type III 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000327447 SCV001719195 benign Glycogen storage disease type III 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000327447 SCV001769168 benign Glycogen storage disease type III 2021-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675321 SCV000800986 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000327447 SCV001454501 benign Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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