ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)

gnomAD frequency: 0.00002  dbSNP: rs748972179
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 RCV000552873 SCV000629456 likely benign Spastic paraplegia 2023-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834756 SCV002086736 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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