ClinVar Miner

Submissions for variant NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)

gnomAD frequency: 0.00001  dbSNP: rs782304760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Genetics Institute, Rambam Health Care Campus RCV001200922 SCV001334244 likely benign Global developmental delay; Microcephaly criteria provided, single submitter clinical testing A healthy family member was found homozygote for this variant, following segregation study in a family.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491693 SCV000282216 likely pathogenic Global developmental delay; Microcephaly; Infantile spasms; Hypotonia 2016-01-10 no assertion criteria provided research

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