ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)

gnomAD frequency: 0.00021  dbSNP: rs202050860
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117746 SCV000151999 uncertain significance not provided 2013-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000665740 SCV000789908 uncertain significance Nemaline myopathy 2 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665740 SCV001416668 benign Nemaline myopathy 2 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000117746 SCV001774238 uncertain significance not provided 2022-05-16 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
Revvity Omics, Revvity RCV000117746 SCV003810170 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000117746 SCV005187934 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000665740 SCV002084035 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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