ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11853A>G (p.Leu3951=)

dbSNP: rs1883510768
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
Athena Diagnostics RCV001288696 SCV001476006 uncertain significance not provided 2020-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835370 SCV002086141 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-01 no assertion criteria provided clinical testing

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