ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3290G>A (p.Arg1097His)

gnomAD frequency: 0.00008  dbSNP: rs185947256
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631133 SCV000752128 likely benign Glycogen storage disease type III 2024-01-20 criteria provided, single submitter clinical testing
Counsyl RCV000631133 SCV000794355 uncertain significance Glycogen storage disease type III 2017-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631133 SCV002055442 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000631133 SCV002779896 uncertain significance Glycogen storage disease type III 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631133 SCV002094528 uncertain significance Glycogen storage disease type III 2020-02-07 no assertion criteria provided clinical testing

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