ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)

dbSNP: rs779338945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410430 SCV000486076 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-03-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410430 SCV004209960 pathogenic Charlevoix-Saguenay spastic ataxia 2023-06-25 criteria provided, single submitter clinical testing

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