ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu)

gnomAD frequency: 0.00075  dbSNP: rs78197987
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533839 SCV000629512 benign Spastic paraplegia 2024-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848927 SCV002104700 benign Hereditary spastic paraplegia 2019-08-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712873 SCV005272675 benign not provided criteria provided, single submitter not provided

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