ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25660-11_25660-10del

dbSNP: rs1585772300
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000918954 SCV001064283 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-18 criteria provided, single submitter clinical testing

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