ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1737A>G (p.Glu579=)

gnomAD frequency: 0.00007  dbSNP: rs199673388
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093217 SCV002376548 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999637 SCV005621622 benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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