ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)

dbSNP: rs1027336196
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 Inc RCV000992773 SCV001145309 uncertain significance not provided 2018-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273193 SCV001455909 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-24 no assertion criteria provided clinical testing

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