ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8046T>C (p.Asn2682=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005228055 SCV005862263 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-05-11 criteria provided, single submitter clinical testing

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