Submissions for variant NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)

gnomAD frequency: 0.94881  dbSNP: rs6659553

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153758	SCV000203332	benign	not specified	2015-03-10	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000153758	SCV000269705	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.1867A) is the minor allele. This a llele (A) has been identified in 17% (759/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs6710212) and thus meets criteria to be classified as benign.
Mendelics	RCV000986313	SCV001135279	benign	Muscle eye brain disease	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001513688	SCV001721347	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789218	SCV002031721	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789217	SCV002031722	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789216	SCV002031723	benign	Autosomal recessive limb-girdle muscular dystrophy type 2O	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789219	SCV002031724	benign	Retinitis pigmentosa 76	2021-10-25	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153758	SCV001743391	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000153758	SCV001921940	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153758	SCV001975198	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000986313	SCV002089578	benign	Muscle eye brain disease	2019-11-16	no assertion criteria provided	clinical testing