ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6978C>G (p.Ala2326=)

dbSNP: rs2137604768
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 RCV001397675 SCV001599434 likely benign Spastic paraplegia 2023-07-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847259 SCV002105075 uncertain significance Hereditary spastic paraplegia 2019-08-01 criteria provided, single submitter clinical testing

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