ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)

dbSNP: rs1348513054
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 RCV000516359 SCV000614941 uncertain significance not specified 2017-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829473 SCV002086731 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-27 no assertion criteria provided clinical testing

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