ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.1148C>T (p.Pro383Leu)

gnomAD frequency: 0.00016  dbSNP: rs755896571
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431368 SCV001634124 likely benign Hereditary spastic paraplegia 2018-11-05 criteria provided, single submitter clinical testing

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