ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.1464G>A (p.Glu488=)

gnomAD frequency: 0.00083  dbSNP: rs142653887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517106 SCV001725533 benign Hereditary spastic paraplegia 2022-11-08 criteria provided, single submitter clinical testing

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