Submissions for variant NM_013382.7(POMT2):c.1654-6A>G

gnomAD frequency: 0.14330  dbSNP: rs4540995

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081567	SCV000113498	benign	not specified	2012-07-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081567	SCV000269716	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	c.1654-6A>G in intron 15 of POMT2: This variant is not expected to have clinical significance because it has been identified in 23% (1034/4406) of African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/; dbSNP rs4540995).
PreventionGenetics, part of Exact Sciences	RCV000081567	SCV000311987	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270588	SCV000388976	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2N	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000576561	SCV000677422	benign	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV001510199	SCV001717180	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576561	SCV001910212	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789142	SCV002031787	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789143	SCV002031788	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000270588	SCV002031789	benign	Autosomal recessive limb-girdle muscular dystrophy type 2N	2021-10-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081567	SCV000152367	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000081567	SCV001923352	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081567	SCV001953286	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081567	SCV001974714	benign	not specified		no assertion criteria provided	clinical testing