ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9651+20G>A

gnomAD frequency: 0.00053  dbSNP: rs200951972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722551 SCV000714041 likely benign not provided 2018-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062167 SCV002419682 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722551 SCV005227922 likely benign not provided criteria provided, single submitter not provided

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