ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=)

gnomAD frequency: 0.00014  dbSNP: rs144235226
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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 RCV001288831 SCV001476210 benign not specified 2019-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069553 SCV002339402 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-03 criteria provided, single submitter clinical testing

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