ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)

gnomAD frequency: 0.00006  dbSNP: rs190673256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195255 SCV000249085 uncertain significance not specified 2014-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554123 SCV000649095 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000195255 SCV001474835 likely benign not specified 2023-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001288032 SCV003824704 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing

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