ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.960G>T (p.Leu320=)

gnomAD frequency: 0.00002  dbSNP: rs531727073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976384 SCV001124285 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029990 SCV002755509 likely benign not specified 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000976384 SCV001453362 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-09-16 no assertion criteria provided clinical testing

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