ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)

gnomAD frequency: 0.00080  dbSNP: rs200367429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875474 SCV001017808 likely benign Nemaline myopathy 10 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001759656 SCV001988296 uncertain significance not provided 2023-01-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Revvity Omics, Revvity RCV000875474 SCV003817009 uncertain significance Nemaline myopathy 10 2020-12-03 criteria provided, single submitter clinical testing

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