ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)

dbSNP: rs886044228
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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) RCV000281266 SCV000344032 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV003765670 SCV004588694 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-23 criteria provided, single submitter clinical testing

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