ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11806-7C>A (rs779713133)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246177 SCV000307197 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000697459 SCV000826071 uncertain significance Nemaline myopathy 2 2018-10-29 criteria provided, single submitter clinical testing This sequence change falls in intron 78 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. This variant is present in population databases (rs779713133, ExAC 0.008%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 257724). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000697459 SCV001461928 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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