ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1269A>G (p.Glu423=)

gnomAD frequency: 0.00002  dbSNP: rs776092174
Minimum review status: Collection method:
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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 RCV003600394 SCV001127193 likely benign Hereditary spastic paraplegia 11 2023-07-19 criteria provided, single submitter clinical testing

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