ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)

dbSNP: rs1571965884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986424 SCV001135424 uncertain significance Gaucher disease type I 2020-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489455 SCV002797644 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 2021-08-04 criteria provided, single submitter clinical testing

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