ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)

gnomAD frequency: 0.00001  dbSNP: rs148518750
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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 RCV000517584 SCV000615592 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766935 SCV004586321 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-11 criteria provided, single submitter clinical testing

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