ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22346+7T>A

gnomAD frequency: 0.00001  dbSNP: rs1209321050
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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 RCV002475148 SCV002771416 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005227788 SCV005866419 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-05 criteria provided, single submitter clinical testing

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