ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=)

dbSNP: rs561155086
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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 RCV001663725 SCV001880886 likely benign not specified 2021-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073103 SCV002385120 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-22 criteria provided, single submitter clinical testing

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