ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2001+8T>C (rs3736296)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254071 SCV000305381 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351044 SCV000346074 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 RCV000254071 SCV000517498 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 RCV000351044 SCV001719197 benign Glycogen storage disease type III 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000351044 SCV001769170 benign Glycogen storage disease type III 2021-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675330 SCV000800996 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000351044 SCV001454514 benign Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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