ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2712+1866G>A

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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 RCV004792329 SCV005414365 uncertain significance Kleefstra syndrome 1 2021-10-29 criteria provided, single submitter clinical testing

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