ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21843A>G (p.Thr7281=)

dbSNP: rs1562279050
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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) RCV000734654 SCV000862810 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225111 SCV005869771 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-30 criteria provided, single submitter clinical testing

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