ClinVar Miner

Submissions for variant NC_000009.12:g.(?_128234001)_(128234127_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031336 SCV001194642 uncertain significance Developmental and epileptic encephalopathy, 31 2021-08-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the DNM1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with seizures, motor difficulties, developmental and language delay (Invitae). 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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