ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr)

dbSNP: rs935982815
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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 RCV000691684 SCV000819473 likely benign Nemaline myopathy 2 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001766482 SCV001998623 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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