ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1781+4C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577091 SCV005060905 uncertain significance Developmental and epileptic encephalopathy, 31A criteria provided, single submitter clinical testing The observed splice region / intronic c.1781+4C>T variant in DNM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This splice region variant in intron 16 affects the position six nucleotides downstream of exon 15. For these reasons, this variant has been classified as Uncertain Significance.

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