ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)

gnomAD frequency: 0.00472  dbSNP: rs35196441
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254002 SCV000302739 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV001705331 SCV000730032 benign not provided 2020-06-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27790088, 26670585, 25133958, 31692161)
Counsyl RCV000665935 SCV000790147 likely benign Glycogen storage disease, type IV 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000963132 SCV001110268 benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-12-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001147158 SCV001307943 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 Laboratory Services,Illumina RCV000665935 SCV001308914 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 RCV000665935 SCV001367470 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254002 SCV002103379 likely benign not specified 2022-02-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705331 SCV002544822 benign not provided 2022-05-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000254002 SCV002035019 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001705331 SCV002036111 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000665935 SCV002082398 likely benign Glycogen storage disease, type IV 2019-11-11 no assertion criteria provided clinical testing

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