ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7878C>T (p.His2626=)

gnomAD frequency: 0.00003  dbSNP: rs138196409
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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) RCV000729696 SCV000857382 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535129 SCV002982224 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-08-02 criteria provided, single submitter clinical testing

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