ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)

gnomAD frequency: 0.00002  dbSNP: rs754906806
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
Invitae RCV000532956 SCV000629477 likely benign Spastic paraplegia 2024-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834758 SCV002086234 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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