ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) (rs761089024)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409299 SCV000487154 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2016-10-12 criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515938 SCV000574469 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research

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