ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1688-8T>C

gnomAD frequency: 0.00047  dbSNP: rs754147042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513107 SCV000609337 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing GBA2: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001078835 SCV001002076 likely benign Spastic paraplegia 2024-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848879 SCV002104707 uncertain significance Hereditary spastic paraplegia 2021-01-22 criteria provided, single submitter clinical testing

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