ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3064T>C (p.Leu1022=)

gnomAD frequency: 0.00001  dbSNP: rs1434992344
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 RCV000934546 SCV001080269 likely benign Hereditary spastic paraplegia 11 2023-08-22 criteria provided, single submitter clinical testing

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