ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.615C>T (p.Ser205=)

gnomAD frequency: 0.00001  dbSNP: rs374522795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880926 SCV001024056 benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000880926 SCV001459073 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-05-01 no assertion criteria provided clinical testing

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