ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1376A>C (p.His459Pro)

dbSNP: rs1593394821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791129 SCV000930403 uncertain significance Autosomal recessive ataxia, Beauce type 2019-04-27 criteria provided, single submitter clinical testing

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