ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)

gnomAD frequency: 0.00006  dbSNP: rs757621444
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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 RCV001241154 SCV001414149 likely benign Nemaline myopathy 2 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001597257 SCV001830930 uncertain significance not provided 2020-12-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001241154 SCV002084137 uncertain significance Nemaline myopathy 2 2020-05-15 no assertion criteria provided clinical testing

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