ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)

gnomAD frequency: 0.00002  dbSNP: rs752274637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171423 SCV000221620 likely pathogenic not provided criteria provided, single submitter research
Revvity Omics, Revvity RCV003133160 SCV003808676 uncertain significance Hereditary spastic paraplegia 46 2019-10-11 criteria provided, single submitter clinical testing

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