ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)

gnomAD frequency: 0.00016  dbSNP: rs200165006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247452 SCV001420875 benign Nemaline myopathy 2 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001550132 SCV001770418 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing 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
Breakthrough Genomics, Breakthrough Genomics RCV001550132 SCV005187931 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001247452 SCV002083951 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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