ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10482A>G (p.Leu3494=)

gnomAD frequency: 0.00008  dbSNP: rs149643158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868694 SCV001010056 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001664505 SCV001880402 benign not specified 2021-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273194 SCV001455913 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 no assertion criteria provided clinical testing

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