ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002285869 SCV002575584 uncertain significance not provided 2022-12-28 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003120879 SCV003786833 likely benign Nemaline myopathy 2 2023-11-24 criteria provided, single submitter clinical testing

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