ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18382-19_18382-17dup

dbSNP: rs1379525352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698069 SCV000723829 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV003767624 SCV004573888 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-20 criteria provided, single submitter clinical testing

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