ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.789dup (p.Glu264Ter)

dbSNP: rs2053388293
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249609 SCV001423639 likely pathogenic Developmental and epileptic encephalopathy 94 2018-03-08 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is absent from or rarely observed in large-scale population databases [PM2].

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