ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11506_11521del (p.His3836fs) (rs1555249878)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674360 SCV000799684 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2018-05-02 criteria provided, single submitter clinical testing

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