ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2904C>T (p.Asp968=)

dbSNP: rs149585868
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 RCV001504618 SCV001709503 likely benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832666 SCV002086706 likely benign Charlevoix-Saguenay spastic ataxia 2020-04-27 no assertion criteria provided clinical testing

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