ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.206G>A (p.Arg69Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003860906 SCV004666329 likely benign Nemaline myopathy 2 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV004784191 SCV005396723 uncertain significance not provided 2024-05-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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