ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.998A>T (p.Glu333Val)

dbSNP: rs1553684545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624791 SCV000740896 likely pathogenic Inborn genetic diseases 2015-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000723295 SCV001521158 pathogenic Glycogen storage disease, type IV 2020-07-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000723295 SCV004171069 pathogenic Glycogen storage disease, type IV 2023-11-26 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000723295 SCV005016587 likely pathogenic Glycogen storage disease, type IV 2024-03-14 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723295 SCV000854685 pathogenic Glycogen storage disease, type IV 2018-05-24 no assertion criteria provided clinical testing

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