ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=)

gnomAD frequency: 0.00001  dbSNP: rs758900989
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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 RCV001663696 SCV001880805 likely benign not specified 2020-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073101 SCV002484343 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-04-10 criteria provided, single submitter clinical testing

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