ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) (rs762947018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169272 SCV000220574 likely pathogenic Charlevoix-Saguenay spastic ataxia 2014-08-05 criteria provided, single submitter literature only
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000169272 SCV000882755 likely pathogenic Charlevoix-Saguenay spastic ataxia 2019-02-11 no assertion criteria provided research The proband has another variant, NM_014363.5: c.11101T>C (p.Trp3701Arg).

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