ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=)

dbSNP: rs200370595
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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 RCV002065728 SCV002327937 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-03-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997481 SCV005622387 likely benign not specified 2024-04-15 criteria provided, single submitter clinical testing

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