ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) (rs386707192)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000201457 SCV000256200 uncertain significance Cardiomyopathy criteria provided, single submitter clinical testing
Invitae RCV000540978 SCV000649025 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-11 criteria provided, single submitter clinical testing

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