ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.954C>T (p.Val318=)

dbSNP: rs372612424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426234 SCV000533590 likely benign not specified 2016-11-10 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 RCV001482870 SCV001687249 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001482870 SCV002796462 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001482870 SCV002093330 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-12-18 no assertion criteria provided clinical testing

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