ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val)

gnomAD frequency: 0.00001  dbSNP: rs756114192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253034 SCV000307385 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001064515 SCV001229422 likely benign Nemaline myopathy 2 2024-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001753719 SCV001995568 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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

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