ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7171G>A (p.Val2391Met)

gnomAD frequency: 0.00002  dbSNP: rs760087813
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 RCV000712988 SCV000843548 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825426 SCV002086224 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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