Submissions for variant NM_001077365.2(POMT1):c.699+53A>G

gnomAD frequency: 0.88248  dbSNP: rs2296949

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216907	SCV000269711	benign	not specified	2014-12-11	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.752A) is the minor allele. This al lele (A) has been identified in 5% (417/8600) of European American chromosomes a nd 26% (1153/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs2296949).
Invitae	RCV001510055	SCV001716991	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789236	SCV002031747	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789234	SCV002031748	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789235	SCV002031749	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	2021-10-25	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000216907	SCV001917154	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000216907	SCV001963596	benign	not specified		no assertion criteria provided	clinical testing