Submissions for variant NM_182961.4(SYNE1):c.17203-6del

dbSNP: rs55633181

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203031	SCV000258271	benign	not specified	2015-02-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000203031	SCV000862971	benign	not specified	2018-08-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000870485	SCV001011983	benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2019-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001573564	SCV001835109	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993890	SCV004812828	benign	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2023-05-04	criteria provided, single submitter	clinical testing	East Asian population allele frequency is 48.02% (rs754818389, 7,715/14,928 alleles, 683 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573564	SCV001799622	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573564	SCV001927597	likely benign	not provided		no assertion criteria provided	clinical testing