ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)

dbSNP: rs1234193312
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278825 SCV001465867 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-04 no assertion criteria provided clinical testing

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