Submissions for variant NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)

gnomAD frequency: 0.00169  dbSNP: rs117985576

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000192982	SCV000113415	likely benign	not specified	2015-11-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192982	SCV000248583	uncertain significance	not specified	2015-06-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192982	SCV000311735	likely benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443667	SCV000511233	uncertain significance	not provided	2016-08-19	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000443667	SCV000514251	likely benign	not provided	2020-10-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18647264, 16575835, 17878207)
Fulgent Genetics, Fulgent Genetics	RCV000515174	SCV000611504	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2017-05-23	criteria provided, single submitter	clinical testing
Invitae	RCV001085429	SCV000649881	likely 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
Athena Diagnostics Inc	RCV000192982	SCV000843346	likely benign	not specified	2021-04-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166758	SCV001329164	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	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.
Baylor Genetics	RCV001332898	SCV001525340	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2019-03-07	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000443667	SCV002541023	uncertain significance	not provided	2021-07-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443667	SCV004010877	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	POMT1: BP4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252355	SCV001428107	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000443667	SCV001799503	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000443667	SCV001930950	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000192982	SCV001959819	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000443667	SCV001973124	likely benign	not provided		no assertion criteria provided	clinical testing