Submissions for variant NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)

gnomAD frequency: 0.04243  dbSNP: rs4740164

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081497	SCV000113428	benign	not specified	2012-11-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081497	SCV000269713	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Val327Ile in exon 10 of POMT1: This variant is not expected to have clinical s ignificance because it has been identified in 4.6% (399/8600) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs4740164).
PreventionGenetics, part of Exact Sciences	RCV000081497	SCV000311765	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296590	SCV000477656	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.
Athena Diagnostics	RCV000576678	SCV000677420	benign	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	2017-04-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510687	SCV001717785	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
GeneDx	RCV001536960	SCV001753778	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789141	SCV002031760	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789140	SCV002031761	benign	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000296590	SCV002031762	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	2021-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001536960	SCV005225919	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081497	SCV000152362	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	RCV000081497	SCV001924597	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081497	SCV001959628	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081497	SCV001970145	benign	not specified		no assertion criteria provided	clinical testing