ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12454G>T (p.Glu4152Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004573542 SCV005055542 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004573542 SCV005632154 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-01-17 criteria provided, single submitter clinical testing

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