ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile)

gnomAD frequency: 0.00005  dbSNP: rs543646763
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 RCV001427335 SCV001630010 likely benign Spastic paraplegia 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005935 SCV005632161 uncertain significance Charlevoix-Saguenay spastic ataxia 2024-02-09 criteria provided, single submitter clinical testing

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