ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17953_18472-56del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818192 SCV000958791 likely pathogenic Nemaline myopathy 2 2019-06-03 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 115-117 and part of exon 114 (c.17953_18472-56del) of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NEB-related conditions. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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