ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) (rs36099971)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513273 SCV000609114 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000666996 SCV000791381 uncertain significance Glycogen storage disease, type IV 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV001080686 SCV001115023 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001149393 SCV001310342 benign Adult polyglucosan body disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000666996 SCV001310343 benign Glycogen storage disease, type IV 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000666996 SCV001368278 benign Glycogen storage disease, type IV 2018-10-29 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Natera, Inc. RCV000666996 SCV001460905 benign Glycogen storage disease, type IV 2020-01-13 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.