ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.405C>T (p.Leu135=)

gnomAD frequency: 0.00162  dbSNP: rs139882066
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000283225 SCV000446315 likely benign Adult polyglucosan body disease 2018-01-13 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 RCV000340436 SCV000446316 likely benign Glycogen storage disease, type IV 2018-01-13 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.
GeneDx RCV000967685 SCV000522307 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000437234 SCV000861423 likely benign not specified 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV001083931 SCV001115091 benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000967685 SCV001154002 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000340436 SCV001653475 likely benign Glycogen storage disease, type IV 2021-05-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000967685 SCV001922564 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000967685 SCV001966654 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000967685 SCV002035805 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000340436 SCV002082394 benign Glycogen storage disease, type IV 2019-10-18 no assertion criteria provided clinical testing

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