ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr)

dbSNP: rs2137627792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647238 SCV001519196 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-12 criteria provided, single submitter research

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