ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2830T>C (p.Leu944=)

gnomAD frequency: 0.00001  dbSNP: rs1348417682
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 RCV001457710 SCV001661515 likely benign Spastic paraplegia 2023-04-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832593 SCV002086709 likely benign Charlevoix-Saguenay spastic ataxia 2021-06-28 no assertion criteria provided clinical testing

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