ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)

gnomAD frequency: 0.00001  dbSNP: rs750412600
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 RCV000527900 SCV000629454 likely benign Spastic paraplegia 2023-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834755 SCV002086121 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-05-09 no assertion criteria provided clinical testing

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