Submissions for variant NM_213599.3(ANO5):c.2236-10dup

dbSNP: rs72105710

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176131	SCV000227736	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001618331	SCV001845621	benign	not provided	2019-11-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001618331	SCV002049602	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV002056948	SCV002401432	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2023-10-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259708	SCV002539215	benign	Gnathodiaphyseal dysplasia	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259710	SCV002539216	benign	Miyoshi muscular dystrophy 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259709	SCV002539217	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000176131	SCV001807011	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000176131	SCV001920649	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000176131	SCV001978225	benign	not specified		no assertion criteria provided	clinical testing