ClinVar Miner

Submissions for variant NM_001135659.3:c.(?_-921)_(931+1_932-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001728022 SCV001976401 pathogenic Autism; Hyperopia, high; Intellectual disability, mild; Moderate global developmental delay; Mild microcephaly 2021-09-20 criteria provided, single submitter clinical testing Deletion of Exons 2-6, possibly also Exon 1

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