ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr)

dbSNP: rs760822809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547165 SCV001766803 uncertain significance not provided 2024-08-06 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. RCV001832740 SCV002077718 uncertain significance Nemaline myopathy 2 2021-04-28 no assertion criteria provided clinical testing

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