ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.1840C>T (p.Leu614=)

gnomAD frequency: 0.00001  dbSNP: rs745444234
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 RCV001497087 SCV001701802 likely benign Hereditary spastic paraplegia 2020-02-27 criteria provided, single submitter clinical testing

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