ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu)

dbSNP: rs1956451830
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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 Statistics and Bioinformatics, University Hospital Bonn RCV001260911 SCV001437679 likely pathogenic Kleefstra syndrome 1 criteria provided, single submitter clinical testing PS2, PM2, PM5, PP3

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