ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2058C>T (p.Ile686=)

gnomAD frequency: 0.00008  dbSNP: rs776262023
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 RCV001483223 SCV001687608 likely benign Hereditary spastic paraplegia 7 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883664 SCV004699784 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SPG7: BP4, BP7

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