ClinVar Miner

Submissions for variant NC_000002.11:g.(?_152484352)_152490482del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343707 SCV001537706 uncertain significance Nemaline myopathy 2 2020-05-23 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon(s) 65-68 of the NEB gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with NEB-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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