ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288393 SCV002580701 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-02-26 criteria provided, single submitter clinical testing

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