ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys)

gnomAD frequency: 0.00003  dbSNP: rs769725005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806523 SCV002050432 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002542357 SCV003273323 likely benign Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001806523 SCV003810335 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing

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