ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)

dbSNP: rs749079132
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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) RCV000380297 SCV000334430 uncertain significance not provided 2015-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504214 SCV001709086 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-08-08 criteria provided, single submitter clinical testing

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