ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=)

gnomAD frequency: 0.00001  dbSNP: rs758146508
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 RCV002162830 SCV002413966 likely benign Hereditary spastic paraplegia 11 2020-11-16 criteria provided, single submitter clinical testing

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