ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=)

gnomAD frequency: 0.00001  dbSNP: rs201679896
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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 RCV001663724 SCV001880884 likely benign not specified 2021-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771830 SCV004580059 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-02-24 criteria provided, single submitter clinical testing

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