ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2265A>G (p.Gln755=)

gnomAD frequency: 0.00020  dbSNP: rs142909555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862406 SCV001002909 likely benign Hereditary spastic paraplegia 11 2025-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396498 SCV004136529 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SPG11: BP4, BP7

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