ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.26001+8A>C

gnomAD frequency: 0.00055  dbSNP: rs145939118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002065507 SCV002440131 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000886584 SCV001798342 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000886584 SCV001973836 likely benign not provided no assertion criteria provided clinical testing

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