ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)

gnomAD frequency: 0.00001  dbSNP: rs1230237404
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 RCV001977606 SCV002265066 likely benign Spastic paraplegia 2024-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473341 SCV002770964 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing

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