ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)

gnomAD frequency: 0.00002  dbSNP: rs371689870
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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 RCV000698723 SCV000827403 likely benign Nemaline myopathy 2 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV004588135 SCV005081517 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Natera, Inc. RCV000698723 SCV002084146 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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