ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1335+9C>G

gnomAD frequency: 0.00001  dbSNP: rs754084067
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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 RCV000939044 SCV001084878 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-08-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711429 SCV005264128 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275621 SCV001460903 uncertain significance Glycogen storage disease, type IV 2020-04-22 no assertion criteria provided clinical testing

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