ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5622C>T (p.Asp1874=)

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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 RCV003082311 SCV003479042 likely benign Nemaline myopathy 2 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV003443125 SCV004168827 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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