Submissions for variant NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)

gnomAD frequency: 0.00056  dbSNP: rs117173425

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194537	SCV000248590	benign	not specified	2021-08-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194537	SCV000338300	likely benign	not specified	2016-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000194537	SCV000527813	benign	not specified	2017-01-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000538523	SCV000649921	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	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120971	SCV001279495	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701637	SCV001929190	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701637	SCV001968700	likely benign	not provided		no assertion criteria provided	clinical testing