ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466366 SCV004210011 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-03-15 criteria provided, single submitter clinical testing

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