ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7152-6A>G

dbSNP: rs2082233766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197028 SCV001367663 uncertain significance Hereditary spastic paraplegia 11 2018-11-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197028 SCV004614123 likely benign Hereditary spastic paraplegia 11 2023-11-08 criteria provided, single submitter clinical testing

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