Submissions for variant NM_182961.4(SYNE1):c.11581-15dup

dbSNP: rs5880967

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000304451	SCV000461263	benign	Cerebellar ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353471	SCV000461264	benign	Emery-Dreifuss muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001712341	SCV000729266	benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509998	SCV001716920	benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815321	SCV002062349	benign	Arthrogryposis multiplex congenita 3, myogenic type	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815320	SCV002062350	benign	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815319	SCV002062352	benign	Autosomal recessive ataxia, Beauce type	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614652	SCV001744786	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000614652	SCV001925345	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000614652	SCV001927322	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614652	SCV001974540	benign	not specified		no assertion criteria provided	clinical testing