ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16804del (p.Met5602fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurology Laboratory, National Cheng Kung University Hospital RCV003316917 SCV004017706 pathogenic Autosomal recessive ataxia, Beauce type 2022-12-14 criteria provided, single submitter clinical testing

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