ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2873_2878del (p.Phe958_Leu959del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004720455 SCV005045865 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation

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