ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1848T>C (p.Asp616=)

gnomAD frequency: 0.00014  dbSNP: rs766509602
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848440 SCV002104709 uncertain significance Hereditary spastic paraplegia 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545270 SCV003276250 likely benign Spastic paraplegia 2023-12-21 criteria provided, single submitter clinical testing

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