ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1473C>T (p.Pro491=)

gnomAD frequency: 0.00094  dbSNP: rs149257166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241921 SCV000305639 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500869 SCV002805535 likely benign 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 2021-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409374 SCV004124912 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing GBA1: BP4, BP7

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