ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13047GGA[1] (p.Glu4350del)

dbSNP: rs1555412533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626804 SCV000747507 uncertain significance Corpus callosum, agenesis of; Seizure; Focal-onset seizure; Ectopic tissue 2017-01-01 criteria provided, single submitter clinical testing

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