ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1795+7G>A

gnomAD frequency: 0.03415  dbSNP: rs73438754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466758 SCV000562451 benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000611005 SCV000714493 benign not specified 2017-02-14 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848836 SCV002104708 benign Hereditary spastic paraplegia 2021-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712866 SCV005272672 benign not provided criteria provided, single submitter not provided

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