Submissions for variant NM_182961.4(SYNE1):c.11734-5T>G

gnomAD frequency: 0.59305  dbSNP: rs9478320

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243119	SCV000316836	benign	not specified		criteria provided, single submitter	clinical testing
Mendelics	RCV000987803	SCV001137259	benign	Autosomal recessive ataxia, Beauce type	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993114	SCV001145856	benign	not provided	2018-11-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815301	SCV002062346	benign	Arthrogryposis multiplex congenita 3, myogenic type	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815300	SCV002062347	benign	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987803	SCV002062348	benign	Autosomal recessive ataxia, Beauce type	2021-07-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000243119	SCV001921417	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000243119	SCV001959960	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243119	SCV001974050	benign	not specified		no assertion criteria provided	clinical testing