ClinVar Miner

Submissions for variant NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001836696 SCV001652790 pathogenic Parkinson disease, late-onset 2021-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781179 SCV002024192 pathogenic not provided 2022-09-15 criteria provided, single submitter clinical testing
OMIM RCV000004533 SCV000024707 pathogenic Gaucher disease type I 2000-03-01 no assertion criteria provided literature only
OMIM RCV000004534 SCV000024708 pathogenic Gaucher disease type II 2000-03-01 no assertion criteria provided literature only
OMIM RCV000004535 SCV000024709 pathogenic Gaucher disease type III 2000-03-01 no assertion criteria provided literature only
OMIM RCV000004536 SCV000024710 pathogenic Gaucher disease perinatal lethal 2000-03-01 no assertion criteria provided literature only

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