ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)

dbSNP: rs2520960923
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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002512489 SCV002822905 likely pathogenic Developmental and epileptic encephalopathy, 85, with or without midline brain defects criteria provided, single submitter clinical testing

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