ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)

gnomAD frequency: 0.00001  dbSNP: rs570556738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478548 SCV001682819 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819703 SCV002069807 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing
Pediatric Oncology, Johns Hopkins University RCV001248843 SCV001147042 uncertain significance not provided 2019-02-15 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001248843 SCV002036452 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001248843 SCV002037963 uncertain significance not provided no assertion criteria provided clinical testing

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