ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.39C>T (p.Asn13=)

gnomAD frequency: 0.00045  dbSNP: rs138203039
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312473 SCV000340772 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401817 SCV000346052 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000401817 SCV000626745 benign Glycogen storage disease type III 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675316 SCV000719991 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675316 SCV001745933 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing AGL: BP4, BS2
Genome-Nilou Lab RCV000401817 SCV002055047 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675316 SCV000800981 likely benign not provided 2017-08-09 no assertion criteria provided clinical testing
Natera, Inc. RCV000401817 SCV002091418 benign Glycogen storage disease type III 2019-10-22 no assertion criteria provided clinical testing

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