ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.21-5C>T

gnomAD frequency: 0.00008  dbSNP: rs565378672
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 RCV000981416 SCV001129388 likely benign Spastic paraplegia 2024-01-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847120 SCV002105010 uncertain significance Hereditary spastic paraplegia 2020-11-25 criteria provided, single submitter clinical testing

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