ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter) (rs1553740233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523219 SCV000620509 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The R6469X variant in the NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R6469X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R6469X as a pathogenic variant.
Counsyl RCV000984199 SCV001132256 likely pathogenic Nemaline myopathy 2 2017-10-20 no assertion criteria provided clinical testing

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