ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) (rs1057517977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413859 SCV000491258 pathogenic not provided 2016-11-10 criteria provided, single submitter clinical testing The R3016X pathogenic variant in the NEB gene has been previously reported in a family with nemaline myopathy who harbored an additional NEB variant. It was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R3016X variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay.
Counsyl RCV000667230 SCV000791650 likely pathogenic Nemaline myopathy 2 2017-05-19 no assertion criteria provided clinical testing
Natera, Inc. RCV000667230 SCV001463522 pathogenic Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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