ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.24G>A (p.Ala8=)

gnomAD frequency: 0.00062  dbSNP: rs28763906
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531577 SCV000518644 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV000971266 SCV001118900 benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-11-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001148056 SCV001308917 likely benign Adult polyglucosan body disease 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.
Illumina Laboratory Services,Illumina RCV001148057 SCV001308918 likely benign Glycogen storage disease, type IV 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.
CeGaT Center for Human Genetics Tuebingen RCV001531577 SCV001746776 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing

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