ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1213144547
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 RCV000992798 SCV001145345 uncertain significance not provided 2018-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276937 SCV001463596 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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