ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.786+9C>A

gnomAD frequency: 0.00023  dbSNP: rs374309697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000500837 SCV000588368 uncertain significance Hereditary spastic paraplegia 5A 2017-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000614875 SCV000721292 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000862733 SCV001003277 likely benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing

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