ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) (rs35196441)

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Total submissions: 7
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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 RCV000254002 SCV000730032 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
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 Clinical Services Laboratory,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 Clinical Services Laboratory,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.

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