ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys)

dbSNP: rs1554768095
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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 RCV000661960 SCV000784290 uncertain significance Autosomal recessive ataxia, Beauce type 2018-03-05 criteria provided, single submitter clinical testing

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