ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16390-6A>G

dbSNP: rs886043083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381717 SCV000338326 uncertain significance not provided 2016-01-06 criteria provided, single submitter clinical testing
Invitae RCV001047211 SCV001211151 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-26 criteria provided, single submitter clinical testing

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