ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.3180C>T (p.Tyr1060=)

gnomAD frequency: 0.00006  dbSNP: rs200789993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131003 SCV002456616 likely benign Hereditary spastic paraplegia 2024-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809789 SCV005432379 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing USP8: BP4, BP7

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