ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)

gnomAD frequency: 0.00001  dbSNP: rs376125033
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443013 SCV001645972 likely benign Hereditary spastic paraplegia 11 2024-10-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847275 SCV002105720 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003399231 SCV004136521 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SPG11: BP4, BP7

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