ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)

gnomAD frequency: 0.00127  dbSNP: rs138032057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518690 SCV000615613 benign not specified 2021-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082047 SCV000649112 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727135 SCV000706055 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000727135 SCV000722743 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing

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