ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)

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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 RCV002898645 SCV003235880 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130770 SCV003810201 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing
GeneDx RCV003130770 SCV003925050 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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