ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)

gnomAD frequency: 0.00048  dbSNP: rs139238702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193493 SCV000249092 uncertain significance not specified 2014-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556513 SCV000648952 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2025-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000556513 SCV003820871 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-26 criteria provided, single submitter clinical testing

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