ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)

gnomAD frequency: 0.00002  dbSNP: rs776022311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438691 SCV000515406 likely benign not specified 2016-10-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521630 SCV001731006 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-11-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703933 SCV005212822 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001521630 SCV002093336 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-07-24 no assertion criteria provided clinical testing

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