ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.562+10G>A

gnomAD frequency: 0.00087  dbSNP: rs199505156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726276 SCV000343384 uncertain significance not provided 2016-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000379778 SCV000722276 likely benign not specified 2017-09-11 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.
Invitae RCV001080035 SCV001026621 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930160 SCV004739337 likely benign G6PC1-related condition 2022-05-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001080035 SCV002093315 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-01-17 no assertion criteria provided clinical testing

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