ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)

gnomAD frequency: 0.00083  dbSNP: rs141339355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712831 SCV000233121 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000712831 SCV000617873 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32906206, 30564623)
Labcorp Genetics (formerly Invitae), Labcorp RCV001088687 SCV000770000 likely 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 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712831 SCV000843366 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000712831 SCV003809721 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing

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