ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=)

gnomAD frequency: 0.00003  dbSNP: rs372723292
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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) RCV000591118 SCV000701744 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Invitae RCV001472775 SCV001676913 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-11-28 criteria provided, single submitter clinical testing

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