ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)

dbSNP: rs1563754171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713681 SCV000844308 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534521 SCV003468346 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-31 criteria provided, single submitter clinical testing

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