ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3884G>A (p.Arg1295His)

gnomAD frequency: 0.00017  dbSNP: rs140481863
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325436 SCV000341259 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing
Invitae RCV000686882 SCV000814422 likely benign Glycogen storage disease type III 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000686882 SCV002055446 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000686882 SCV002783796 uncertain significance Glycogen storage disease type III 2022-02-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000325436 SCV004227878 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000686882 SCV001456551 uncertain significance Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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