ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1886C>T (p.Ala629Val)

gnomAD frequency: 0.00003  dbSNP: rs760505057
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 RCV000530995 SCV000629457 likely benign Spastic paraplegia 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829566 SCV002086729 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-12-17 no assertion criteria provided clinical testing

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