ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.67+8G>A

gnomAD frequency: 0.00003  dbSNP: rs375377075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003791311 SCV004583028 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-10-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000034 SCV005622405 likely benign not specified 2024-05-09 criteria provided, single submitter clinical testing

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