ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2088C>T (p.Ser696=)

gnomAD frequency: 0.00034  dbSNP: rs144491501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555834 SCV000626690 likely benign Glycogen storage disease type III 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114654 SCV003799610 likely benign not provided 2022-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003114654 SCV004009862 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing AGL: BP4, BP7
Genome-Nilou Lab RCV000555834 SCV004049990 likely benign Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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