ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)

dbSNP: rs199474695
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
Baylor Genetics RCV003467200 SCV004209945 pathogenic Charlevoix-Saguenay spastic ataxia 2023-08-03 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144427 SCV000189482 not provided not provided no assertion provided not provided

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