Submissions for variant NM_001077365.2(POMT1):c.123-6_123-5dup

dbSNP: rs148086540

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177269	SCV000229113	benign	not specified	2015-03-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177269	SCV000248581	benign	not specified	2014-07-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000327854	SCV000477651	likely benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054088	SCV002414571	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177269	SCV002034633	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795294	SCV002037060	likely benign	not provided		no assertion criteria provided	clinical testing