ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.581+18G>A

gnomAD frequency: 0.00095  dbSNP: rs111309750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718970 SCV000723249 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065309 SCV002494298 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403421 SCV004121699 likely benign not specified 2023-10-16 criteria provided, single submitter clinical testing

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