ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.83T>C (p.Leu28Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819947 SCV005440574 uncertain significance Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset criteria provided, single submitter clinical testing PM2_Supporting+PM3_Supporting+PP4

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