ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.42C>A (p.Gly14=)

dbSNP: rs376542524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504440 SCV001709317 likely benign Hereditary spastic paraplegia 11 2024-01-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848944 SCV002105718 uncertain significance Hereditary spastic paraplegia 2019-02-15 criteria provided, single submitter clinical testing

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